RIMS1 - SNP

Search results

Items: 1 to 20 of 192055

<< First< Prev

Page of 9603

Next >Last >>

Select item 10552701.

rs1055270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:72402678 (GRCh38)
6:73112380 (GRCh37)
Canonical SPDI:: NC_000006.12:72402677:C:A,NC_000006.12:72402677:C:G,NC_000006.12:72402677:C:T
Gene:: RIMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.112163/18905 (ALFA)
A=0.067093/42 (Chileans)
A=0.087963/19 (Qatari)
A=0.097378/52 (MGP)
A=0.1/188 (HapMap)
A=0.106212/106 (GoNL)
A=0.108049/8503 (PAGE_STUDY)
A=0.114083/209 (Korea1K)
A=0.116021/581 (1000Genomes)
A=0.118108/31262 (TOPMED)
A=0.126362/487 (ALSPAC)
A=0.12918/479 (TWINSUK)
A=0.134334/2251 (TOMMO)
A=0.143053/418 (KOREAN)
A=0.143519/31 (Vietnamese)
A=0.147545/661 (Estonian)
A=0.15/6 (GENOME_DK)
A=0.175/105 (NorthernSweden)
C=0.423077/11 (Siberian)
C=0.425373/57 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72402678C>A, NC_000006.12:g.72402678C>G, NC_000006.12:g.72402678C>T, NC_000006.11:g.73112380C>A, NC_000006.11:g.73112380C>G, NC_000006.11:g.73112380C>T, NG_016209.1:g.520731C>A, NG_016209.1:g.520731C>G, NG_016209.1:g.520731C>T, NM_014989.7:c.*1964C>A, NM_014989.7:c.*1964C>G, NM_014989.7:c.*1964C>T, NM_014989.6:c.*1964C>A, NM_014989.6:c.*1964C>G, NM_014989.6:c.*1964C>T, NM_014989.5:c.*1964C>A, NM_014989.5:c.*1964C>G, NM_014989.5:c.*1964C>T, NM_001350436.2:c.*1964C>A, NM_001350436.2:c.*1964C>G, NM_001350436.2:c.*1964C>T, NM_001350436.1:c.*1964C>A, NM_001350436.1:c.*1964C>G, NM_001350436.1:c.*1964C>T, NM_001350446.2:c.*1964C>A, NM_001350446.2:c.*1964C>G, NM_001350446.2:c.*1964C>T, NM_001350446.1:c.*1964C>A, NM_001350446.1:c.*1964C>G, NM_001350446.1:c.*1964C>T, NM_001350456.2:c.*1964C>A, NM_001350456.2:c.*1964C>G, NM_001350456.2:c.*1964C>T, NM_001350456.1:c.*1964C>A, NM_001350456.1:c.*1964C>G, NM_001350456.1:c.*1964C>T, NM_001350420.2:c.*1964C>A, NM_001350420.2:c.*1964C>G, NM_001350420.2:c.*1964C>T, NM_001350420.1:c.*1964C>A, NM_001350420.1:c.*1964C>G, NM_001350420.1:c.*1964C>T, NM_001350437.2:c.*1964C>A, NM_001350437.2:c.*1964C>G, NM_001350437.2:c.*1964C>T, NM_001350437.1:c.*1964C>A, NM_001350437.1:c.*1964C>G, NM_001350437.1:c.*1964C>T, NM_001350431.2:c.*1964C>A, NM_001350431.2:c.*1964C>G, NM_001350431.2:c.*1964C>T, NM_001350431.1:c.*1964C>A, NM_001350431.1:c.*1964C>G, NM_001350431.1:c.*1964C>T, NM_001350433.2:c.*1964C>A, NM_001350433.2:c.*1964C>G, NM_001350433.2:c.*1964C>T, NM_001350433.1:c.*1964C>A, NM_001350433.1:c.*1964C>G, NM_001350433.1:c.*1964C>T, NM_001350415.2:c.*1964C>A, NM_001350415.2:c.*1964C>G, NM_001350415.2:c.*1964C>T, NM_001350415.1:c.*1964C>A, NM_001350415.1:c.*1964C>G, NM_001350415.1:c.*1964C>T, NM_001350459.2:c.*1964C>A, NM_001350459.2:c.*1964C>G, NM_001350459.2:c.*1964C>T, NM_001350459.1:c.*1964C>A, NM_001350459.1:c.*1964C>G, NM_001350459.1:c.*1964C>T, NM_001350421.2:c.*1964C>A, NM_001350421.2:c.*1964C>G, NM_001350421.2:c.*1964C>T, NM_001350421.1:c.*1964C>A, NM_001350421.1:c.*1964C>G, NM_001350421.1:c.*1964C>T, NM_001350458.2:c.*1964C>A, NM_001350458.2:c.*1964C>G, NM_001350458.2:c.*1964C>T, NM_001350458.1:c.*1964C>A, NM_001350458.1:c.*1964C>G, NM_001350458.1:c.*1964C>T, NM_001350416.2:c.*1964C>A, NM_001350416.2:c.*1964C>G, NM_001350416.2:c.*1964C>T, NM_001350416.1:c.*1964C>A, NM_001350416.1:c.*1964C>G, NM_001350416.1:c.*1964C>T, NM_001350448.2:c.*1964C>A, NM_001350448.2:c.*1964C>G, NM_001350448.2:c.*1964C>T, NM_001350448.1:c.*1964C>A, NM_001350448.1:c.*1964C>G, NM_001350448.1:c.*1964C>T, NM_001168407.2:c.*1964C>A, NM_001168407.2:c.*1964C>G, NM_001168407.2:c.*1964C>T, NM_001168407.1:c.*1964C>A, NM_001168407.1:c.*1964C>G, NM_001168407.1:c.*1964C>T, NM_001350462.2:c.*1964C>A, NM_001350462.2:c.*1964C>G, NM_001350462.2:c.*1964C>T, NM_001350462.1:c.*1964C>A, NM_001350462.1:c.*1964C>G, NM_001350462.1:c.*1964C>T, NM_001350418.2:c.*1964C>A, NM_001350418.2:c.*1964C>G, NM_001350418.2:c.*1964C>T, NM_001350418.1:c.*1964C>A, NM_001350418.1:c.*1964C>G, NM_001350418.1:c.*1964C>T, NM_001350471.2:c.*1964C>A, NM_001350471.2:c.*1964C>G, NM_001350471.2:c.*1964C>T, NM_001350471.1:c.*1964C>A, NM_001350471.1:c.*1964C>G, NM_001350471.1:c.*1964C>T, NM_001350414.2:c.*1964C>A, NM_001350414.2:c.*1964C>G, NM_001350414.2:c.*1964C>T, NM_001350414.1:c.*1964C>A, NM_001350414.1:c.*1964C>G, NM_001350414.1:c.*1964C>T, NM_001350425.2:c.*1964C>A, NM_001350425.2:c.*1964C>G, NM_001350425.2:c.*1964C>T, NM_001350425.1:c.*1964C>A, NM_001350425.1:c.*1964C>G, NM_001350425.1:c.*1964C>T, NM_001350435.2:c.*1964C>A, NM_001350435.2:c.*1964C>G, NM_001350435.2:c.*1964C>T, NM_001350435.1:c.*1964C>A, NM_001350435.1:c.*1964C>G, NM_001350435.1:c.*1964C>T, NM_001350457.2:c.*1964C>A, NM_001350457.2:c.*1964C>G, NM_001350457.2:c.*1964C>T, NM_001350457.1:c.*1964C>A, NM_001350457.1:c.*1964C>G, NM_001350457.1:c.*1964C>T, NM_001350439.2:c.*1964C>A, NM_001350439.2:c.*1964C>G, NM_001350439.2:c.*1964C>T, NM_001350439.1:c.*1964C>A, NM_001350439.1:c.*1964C>G, NM_001350439.1:c.*1964C>T, NM_001350441.2:c.*1964C>A, NM_001350441.2:c.*1964C>G, NM_001350441.2:c.*1964C>T, NM_001350441.1:c.*1964C>A, NM_001350441.1:c.*1964C>G, NM_001350441.1:c.*1964C>T, NM_001350454.2:c.*1964C>A, NM_001350454.2:c.*1964C>G, NM_001350454.2:c.*1964C>T, NM_001350454.1:c.*1964C>A, NM_001350454.1:c.*1964C>G, NM_001350454.1:c.*1964C>T, NM_001350443.2:c.*1964C>A, NM_001350443.2:c.*1964C>G, NM_001350443.2:c.*1964C>T, NM_001350443.1:c.*1964C>A, NM_001350443.1:c.*1964C>G, NM_001350443.1:c.*1964C>T, NM_001350460.2:c.*1964C>A, NM_001350460.2:c.*1964C>G, NM_001350460.2:c.*1964C>T, NM_001350460.1:c.*1964C>A, NM_001350460.1:c.*1964C>G, NM_001350460.1:c.*1964C>T, NM_001350447.2:c.*1964C>A, NM_001350447.2:c.*1964C>G, NM_001350447.2:c.*1964C>T, NM_001350447.1:c.*1964C>A, NM_001350447.1:c.*1964C>G, NM_001350447.1:c.*1964C>T, NM_001350469.2:c.*1964C>A, NM_001350469.2:c.*1964C>G, NM_001350469.2:c.*1964C>T, NM_001350469.1:c.*1964C>A, NM_001350469.1:c.*1964C>G, NM_001350469.1:c.*1964C>T, NM_001350429.2:c.*1964C>A, NM_001350429.2:c.*1964C>G, NM_001350429.2:c.*1964C>T, NM_001350429.1:c.*1964C>A, NM_001350429.1:c.*1964C>G, NM_001350429.1:c.*1964C>T, NM_001350444.2:c.*1964C>A, NM_001350444.2:c.*1964C>G, NM_001350444.2:c.*1964C>T, NM_001350444.1:c.*1964C>A, NM_001350444.1:c.*1964C>G, NM_001350444.1:c.*1964C>T, NM_001350461.2:c.*1964C>A, NM_001350461.2:c.*1964C>G, NM_001350461.2:c.*1964C>T, NM_001350461.1:c.*1964C>A, NM_001350461.1:c.*1964C>G, NM_001350461.1:c.*1964C>T, NM_001350474.2:c.*1964C>A, NM_001350474.2:c.*1964C>G, NM_001350474.2:c.*1964C>T, NM_001350474.1:c.*1964C>A, NM_001350474.1:c.*1964C>G, NM_001350474.1:c.*1964C>T, NM_001350423.2:c.*1964C>A, NM_001350423.2:c.*1964C>G, NM_001350423.2:c.*1964C>T, NM_001350423.1:c.*1964C>A, NM_001350423.1:c.*1964C>G, NM_001350423.1:c.*1964C>T, NM_001350466.2:c.*1964C>A, NM_001350466.2:c.*1964C>G, NM_001350466.2:c.*1964C>T, NM_001350466.1:c.*1964C>A, NM_001350466.1:c.*1964C>G, NM_001350466.1:c.*1964C>T, NM_001350464.2:c.*1964C>A, NM_001350464.2:c.*1964C>G, NM_001350464.2:c.*1964C>T, NM_001350464.1:c.*1964C>A, NM_001350464.1:c.*1964C>G, NM_001350464.1:c.*1964C>T, NM_001350463.2:c.*1964C>A, NM_001350463.2:c.*1964C>G, NM_001350463.2:c.*1964C>T, NM_001350463.1:c.*1964C>A, NM_001350463.1:c.*1964C>G, NM_001350463.1:c.*1964C>T, NM_001350442.2:c.*1964C>A, NM_001350442.2:c.*1964C>G, NM_001350442.2:c.*1964C>T, NM_001350442.1:c.*1964C>A, NM_001350442.1:c.*1964C>G, NM_001350442.1:c.*1964C>T, NM_001350438.2:c.*1964C>A, NM_001350438.2:c.*1964C>G, NM_001350438.2:c.*1964C>T, NM_001350438.1:c.*1964C>A, NM_001350438.1:c.*1964C>G, NM_001350438.1:c.*1964C>T, NM_001350467.2:c.*1964C>A, NM_001350467.2:c.*1964C>G, NM_001350467.2:c.*1964C>T, NM_001350467.1:c.*1964C>A, NM_001350467.1:c.*1964C>G, NM_001350467.1:c.*1964C>T, NM_001350428.2:c.*1964C>A, NM_001350428.2:c.*1964C>G, NM_001350428.2:c.*1964C>T, NM_001350428.1:c.*1964C>A, NM_001350428.1:c.*1964C>G, NM_001350428.1:c.*1964C>T, NM_001350430.2:c.*1964C>A, NM_001350430.2:c.*1964C>G, NM_001350430.2:c.*1964C>T, NM_001350430.1:c.*1964C>A, NM_001350430.1:c.*1964C>G, NM_001350430.1:c.*1964C>T, NM_001350445.2:c.*1964C>A, NM_001350445.2:c.*1964C>G, NM_001350445.2:c.*1964C>T, NM_001350445.1:c.*1964C>A, NM_001350445.1:c.*1964C>G, NM_001350445.1:c.*1964C>T, NM_001350468.2:c.*1964C>A, NM_001350468.2:c.*1964C>G, NM_001350468.2:c.*1964C>T, NM_001350468.1:c.*1964C>A, NM_001350468.1:c.*1964C>G, NM_001350468.1:c.*1964C>T, NM_001350434.2:c.*1964C>A, NM_001350434.2:c.*1964C>G, NM_001350434.2:c.*1964C>T, NM_001350434.1:c.*1964C>A, NM_001350434.1:c.*1964C>G, NM_001350434.1:c.*1964C>T, NM_001350424.2:c.*1964C>A, NM_001350424.2:c.*1964C>G, NM_001350424.2:c.*1964C>T, NM_001350424.1:c.*1964C>A, NM_001350424.1:c.*1964C>G, NM_001350424.1:c.*1964C>T, NM_001350450.2:c.*1964C>A, NM_001350450.2:c.*1964C>G, NM_001350450.2:c.*1964C>T, NM_001350450.1:c.*1964C>A, NM_001350450.1:c.*1964C>G, NM_001350450.1:c.*1964C>T, NM_001350417.2:c.*1964C>A, NM_001350417.2:c.*1964C>G, NM_001350417.2:c.*1964C>T, NM_001350417.1:c.*1964C>A, NM_001350417.1:c.*1964C>G, NM_001350417.1:c.*1964C>T, NM_001350422.2:c.*1964C>A, NM_001350422.2:c.*1964C>G, NM_001350422.2:c.*1964C>T, NM_001350422.1:c.*1964C>A, NM_001350422.1:c.*1964C>G, NM_001350422.1:c.*1964C>T, NM_001350470.2:c.*1964C>A, NM_001350470.2:c.*1964C>G, NM_001350470.2:c.*1964C>T, NM_001350470.1:c.*1964C>A, NM_001350470.1:c.*1964C>G, NM_001350470.1:c.*1964C>T, NM_001168410.2:c.*1964C>A, NM_001168410.2:c.*1964C>G, NM_001168410.2:c.*1964C>T, NM_001168410.1:c.*1964C>A, NM_001168410.1:c.*1964C>G, NM_001168410.1:c.*1964C>T, NM_001168408.2:c.*1964C>A, NM_001168408.2:c.*1964C>G, NM_001168408.2:c.*1964C>T, NM_001168408.1:c.*1964C>A, NM_001168408.1:c.*1964C>G, NM_001168408.1:c.*1964C>T, NM_001350427.2:c.*1964C>A, NM_001350427.2:c.*1964C>G, NM_001350427.2:c.*1964C>T, NM_001350427.1:c.*1964C>A, NM_001350427.1:c.*1964C>G, NM_001350427.1:c.*1964C>T, NM_001350449.2:c.*1964C>A, NM_001350449.2:c.*1964C>G, NM_001350449.2:c.*1964C>T, NM_001350449.1:c.*1964C>A, NM_001350449.1:c.*1964C>G, NM_001350449.1:c.*1964C>T, NM_001350473.2:c.*1964C>A, NM_001350473.2:c.*1964C>G, NM_001350473.2:c.*1964C>T, NM_001350473.1:c.*1964C>A, NM_001350473.1:c.*1964C>G, NM_001350473.1:c.*1964C>T, NM_001350472.2:c.*1964C>A, NM_001350472.2:c.*1964C>G, NM_001350472.2:c.*1964C>T, NM_001350472.1:c.*1964C>A, NM_001350472.1:c.*1964C>G, NM_001350472.1:c.*1964C>T, NM_001350426.2:c.*1964C>A, NM_001350426.2:c.*1964C>G, NM_001350426.2:c.*1964C>T, NM_001350426.1:c.*1964C>A, NM_001350426.1:c.*1964C>G, NM_001350426.1:c.*1964C>T, NM_001350440.2:c.*1964C>A, NM_001350440.2:c.*1964C>G, NM_001350440.2:c.*1964C>T, NM_001350440.1:c.*1964C>A, NM_001350440.1:c.*1964C>G, NM_001350440.1:c.*1964C>T, NM_001350432.2:c.*1964C>A, NM_001350432.2:c.*1964C>G, NM_001350432.2:c.*1964C>T, NM_001350432.1:c.*1964C>A, NM_001350432.1:c.*1964C>G, NM_001350432.1:c.*1964C>T, NM_001168409.2:c.*1964C>A, NM_001168409.2:c.*1964C>G, NM_001168409.2:c.*1964C>T, NM_001168409.1:c.*1964C>A, NM_001168409.1:c.*1964C>G, NM_001168409.1:c.*1964C>T, NM_001350455.2:c.*1964C>A, NM_001350455.2:c.*1964C>G, NM_001350455.2:c.*1964C>T, NM_001350455.1:c.*1964C>A, NM_001350455.1:c.*1964C>G, NM_001350455.1:c.*1964C>T, NM_001350419.2:c.*1964C>A, NM_001350419.2:c.*1964C>G, NM_001350419.2:c.*1964C>T, NM_001350419.1:c.*1964C>A, NM_001350419.1:c.*1964C>G, NM_001350419.1:c.*1964C>T, NM_001350465.2:c.*1964C>A, NM_001350465.2:c.*1964C>G, NM_001350465.2:c.*1964C>T, NM_001350465.1:c.*1964C>A, NM_001350465.1:c.*1964C>G, NM_001350465.1:c.*1964C>T, NM_001168411.2:c.*1964C>A, NM_001168411.2:c.*1964C>G, NM_001168411.2:c.*1964C>T, NM_001168411.1:c.*1964C>A, NM_001168411.1:c.*1964C>G, NM_001168411.1:c.*1964C>T, XM_011535604.4:c.*1964C>A, XM_011535604.4:c.*1964C>G, XM_011535604.4:c.*1964C>T, XM_011535604.3:c.*1964C>A, XM_011535604.3:c.*1964C>G, XM_011535604.3:c.*1964C>T, XM_011535604.2:c.*1964C>A, XM_011535604.2:c.*1964C>G, XM_011535604.2:c.*1964C>T, XM_011535604.1:c.*1964C>A, XM_011535604.1:c.*1964C>G, XM_011535604.1:c.*1964C>T, XM_017010516.3:c.*1964C>A, XM_017010516.3:c.*1964C>G, XM_017010516.3:c.*1964C>T, XM_017010516.2:c.*1964C>A, XM_017010516.2:c.*1964C>G, XM_017010516.2:c.*1964C>T, XM_017010516.1:c.*1964C>A, XM_017010516.1:c.*1964C>G, XM_017010516.1:c.*1964C>T, XM_017010517.3:c.*1964C>A, XM_017010517.3:c.*1964C>G, XM_017010517.3:c.*1964C>T, XM_017010517.2:c.*1964C>A, XM_017010517.2:c.*1964C>G, XM_017010517.2:c.*1964C>T, XM_017010517.1:c.*1964C>A, XM_017010517.1:c.*1964C>G, XM_017010517.1:c.*1964C>T, XM_017010518.3:c.*1964C>A, XM_017010518.3:c.*1964C>G, XM_017010518.3:c.*1964C>T, XM_017010518.2:c.*1964C>A, XM_017010518.2:c.*1964C>G, XM_017010518.2:c.*1964C>T, XM_017010518.1:c.*1964C>A, XM_017010518.1:c.*1964C>G, XM_017010518.1:c.*1964C>T, XM_017010519.3:c.*1964C>A, XM_017010519.3:c.*1964C>G, XM_017010519.3:c.*1964C>T, XM_017010519.2:c.*1964C>A, XM_017010519.2:c.*1964C>G, XM_017010519.2:c.*1964C>T, XM_017010519.1:c.*1964C>A, XM_017010519.1:c.*1964C>G, XM_017010519.1:c.*1964C>T, XM_017010520.3:c.*1964C>A, XM_017010520.3:c.*1964C>G, XM_017010520.3:c.*1964C>T, XM_017010520.2:c.*1964C>A, XM_017010520.2:c.*1964C>G, XM_017010520.2:c.*1964C>T, XM_017010520.1:c.*1964C>A, XM_017010520.1:c.*1964C>G, XM_017010520.1:c.*1964C>T, XM_017010521.3:c.*1964C>A, XM_017010521.3:c.*1964C>G, XM_017010521.3:c.*1964C>T, XM_017010521.2:c.*1964C>A, XM_017010521.2:c.*1964C>G, XM_017010521.2:c.*1964C>T, XM_017010521.1:c.*1964C>A, XM_017010521.1:c.*1964C>G, XM_017010521.1:c.*1964C>T, XM_017010522.3:c.*1964C>A, XM_017010522.3:c.*1964C>G, XM_017010522.3:c.*1964C>T, XM_017010522.2:c.*1964C>A, XM_017010522.2:c.*1964C>G, XM_017010522.2:c.*1964C>T, XM_017010522.1:c.*1964C>A, XM_017010522.1:c.*1964C>G, XM_017010522.1:c.*1964C>T, XM_017010525.3:c.*1964C>A, XM_017010525.3:c.*1964C>G, XM_017010525.3:c.*1964C>T, XM_017010525.2:c.*1964C>A, XM_017010525.2:c.*1964C>G, XM_017010525.2:c.*1964C>T, XM_017010525.1:c.*1964C>A, XM_017010525.1:c.*1964C>G, XM_017010525.1:c.*1964C>T, XM_017010537.3:c.*1964C>A, XM_017010537.3:c.*1964C>G, XM_017010537.3:c.*1964C>T, XM_017010537.2:c.*1964C>A, XM_017010537.2:c.*1964C>G, XM_017010537.2:c.*1964C>T, XM_017010537.1:c.*1964C>A, XM_017010537.1:c.*1964C>G, XM_017010537.1:c.*1964C>T, XM_017010544.3:c.*1964C>A, XM_017010544.3:c.*1964C>G, XM_017010544.3:c.*1964C>T, XM_017010544.2:c.*1964C>A, XM_017010544.2:c.*1964C>G, XM_017010544.2:c.*1964C>T, XM_017010544.1:c.*1964C>A, XM_017010544.1:c.*1964C>G, XM_017010544.1:c.*1964C>T, XM_017010546.3:c.*1964C>A, XM_017010546.3:c.*1964C>G, XM_017010546.3:c.*1964C>T, XM_017010546.2:c.*1964C>A, XM_017010546.2:c.*1964C>G, XM_017010546.2:c.*1964C>T, XM_017010546.1:c.*1964C>A, XM_017010546.1:c.*1964C>G, XM_017010546.1:c.*1964C>T, XM_024446369.2:c.*1964C>A, XM_024446369.2:c.*1964C>G, XM_024446369.2:c.*1964C>T, XM_024446369.1:c.*1964C>A, XM_024446369.1:c.*1964C>G, XM_024446369.1:c.*1964C>T, XM_024446372.2:c.*1964C>A, XM_024446372.2:c.*1964C>G, XM_024446372.2:c.*1964C>T, XM_024446372.1:c.*1964C>A, XM_024446372.1:c.*1964C>G, XM_024446372.1:c.*1964C>T, XM_047418416.1:c.*1964C>A, XM_047418416.1:c.*1964C>G, XM_047418416.1:c.*1964C>T, XM_047418417.1:c.*1964C>A, XM_047418417.1:c.*1964C>G, XM_047418417.1:c.*1964C>T, XM_047418418.1:c.*1964C>A, XM_047418418.1:c.*1964C>G, XM_047418418.1:c.*1964C>T, XM_047418419.1:c.*1964C>A, XM_047418419.1:c.*1964C>G, XM_047418419.1:c.*1964C>T, XM_047418420.1:c.*1964C>A, XM_047418420.1:c.*1964C>G, XM_047418420.1:c.*1964C>T, XM_047418421.1:c.*1964C>A, XM_047418421.1:c.*1964C>G, XM_047418421.1:c.*1964C>T, XM_047418422.1:c.*1964C>A, XM_047418422.1:c.*1964C>G, XM_047418422.1:c.*1964C>T, XM_047418423.1:c.*1964C>A, XM_047418423.1:c.*1964C>G, XM_047418423.1:c.*1964C>T, XM_047418424.1:c.*1964C>A, XM_047418424.1:c.*1964C>G, XM_047418424.1:c.*1964C>T, XM_047418425.1:c.*1964C>A, XM_047418425.1:c.*1964C>G, XM_047418425.1:c.*1964C>T, XM_047418426.1:c.*1964C>A, XM_047418426.1:c.*1964C>G, XM_047418426.1:c.*1964C>T

Select item 22490212.

rs2249021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:72179769 (GRCh38)
6:72889472 (GRCh37)
Canonical SPDI:: NC_000006.12:72179768:A:G,NC_000006.12:72179768:A:T
Gene:: RIMS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.360886/51894 (ALFA)
A=0.095619/1603 (TOMMO)
A=0.124317/364 (KOREAN)
A=0.127729/234 (Korea1K)
A=0.159615/83 (SGDP_PRJ)
A=0.20098/123 (Vietnamese)
A=0.232768/439 (HapMap)
A=0.246096/1232 (1000Genomes)
A=0.288462/15 (Siberian)
A=0.295912/78325 (TOPMED)
A=0.308881/3937 (GoESP)
A=0.310185/67 (Qatari)
A=0.351667/211 (NorthernSweden)
A=0.364887/1353 (TWINSUK)
A=0.371743/371 (GoNL)
A=0.375/15 (GENOME_DK)
A=0.37727/1454 (ALSPAC)
A=0.378289/115 (FINRISK)
A=0.402902/1805 (Estonian)
G=0.485019/259 (MGP)
HGVS:: NC_000006.12:g.72179769A>G, NC_000006.12:g.72179769A>T, NC_000006.11:g.72889472A>G, NC_000006.11:g.72889472A>T, NG_016209.1:g.297823A>G, NG_016209.1:g.297823A>T, NM_014989.7:c.666A>G, NM_014989.7:c.666A>T, NM_014989.6:c.666A>G, NM_014989.6:c.666A>T, NM_014989.5:c.666A>G, NM_014989.5:c.666A>T, XM_011535604.4:c.666A>G, XM_011535604.4:c.666A>T, XM_011535604.3:c.666A>G, XM_011535604.3:c.666A>T, XM_011535604.2:c.666A>G, XM_011535604.2:c.666A>T, XM_017010516.3:c.666A>G, XM_017010516.3:c.666A>T, XM_017010516.2:c.666A>G, XM_017010516.2:c.666A>T, XM_017010516.1:c.666A>G, XM_017010516.1:c.666A>T, XM_017010517.3:c.666A>G, XM_017010517.3:c.666A>T, XM_017010517.2:c.666A>G, XM_017010517.2:c.666A>T, XM_017010517.1:c.666A>G, XM_017010517.1:c.666A>T, XM_017010518.3:c.666A>G, XM_017010518.3:c.666A>T, XM_017010518.2:c.666A>G, XM_017010518.2:c.666A>T, XM_017010518.1:c.666A>G, XM_017010518.1:c.666A>T, XM_017010519.3:c.666A>G, XM_017010519.3:c.666A>T, XM_017010519.2:c.666A>G, XM_017010519.2:c.666A>T, XM_017010519.1:c.666A>G, XM_017010519.1:c.666A>T, XM_017010520.3:c.666A>G, XM_017010520.3:c.666A>T, XM_017010520.2:c.666A>G, XM_017010520.2:c.666A>T, XM_017010520.1:c.666A>G, XM_017010520.1:c.666A>T, XM_017010521.3:c.666A>G, XM_017010521.3:c.666A>T, XM_017010521.2:c.666A>G, XM_017010521.2:c.666A>T, XM_017010521.1:c.666A>G, XM_017010521.1:c.666A>T, XM_017010522.3:c.666A>G, XM_017010522.3:c.666A>T, XM_017010522.2:c.666A>G, XM_017010522.2:c.666A>T, XM_017010522.1:c.666A>G, XM_017010522.1:c.666A>T, XM_017010525.3:c.666A>G, XM_017010525.3:c.666A>T, XM_017010525.2:c.666A>G, XM_017010525.2:c.666A>T, XM_017010525.1:c.666A>G, XM_017010525.1:c.666A>T, XM_024446369.2:c.666A>G, XM_024446369.2:c.666A>T, XM_024446369.1:c.666A>G, XM_024446369.1:c.666A>T, XM_047418416.1:c.666A>G, XM_047418416.1:c.666A>T, XM_047418417.1:c.654A>G, XM_047418417.1:c.654A>T, XM_047418418.1:c.654A>G, XM_047418418.1:c.654A>T, XM_047418419.1:c.666A>G, XM_047418419.1:c.666A>T, XM_047418420.1:c.573A>G, XM_047418420.1:c.573A>T, XM_047418421.1:c.666A>G, XM_047418421.1:c.666A>T, XM_047418422.1:c.573A>G, XM_047418422.1:c.573A>T, XM_047418423.1:c.654A>G, XM_047418423.1:c.654A>T, XM_047418424.1:c.573A>G, XM_047418424.1:c.573A>T, XM_047418425.1:c.573A>G, XM_047418425.1:c.573A>T, XM_047418426.1:c.573A>G, XM_047418426.1:c.573A>T

Select item 24637303.

rs2463730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:72182554 (GRCh38)
6:72892257 (GRCh37)
Canonical SPDI:: NC_000006.12:72182553:A:G,NC_000006.12:72182553:A:T
Gene:: RIMS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006291/381 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (GENOME_DK)
A=0./0 (Korea1K)
A=0./0 (NorthernSweden)
A=0./0 (Siberian)
A=0./0 (TOMMO)
A=0./0 (TWINSUK)
A=0./0 (Vietnamese)
A=0.000342/1 (KOREAN)
A=0.00463/1 (Qatari)
A=0.005039/792 (GnomAD_exomes)
A=0.007168/4 (SGDP_PRJ)
A=0.007729/185 (ExAC)
A=0.025026/3509 (GnomAD)
A=0.025652/311 (GoESP)
A=0.026877/7114 (TOPMED)
A=0.028107/141 (1000Genomes)
G=0.2397/128 (MGP)
HGVS:: NC_000006.12:g.72182554A>G, NC_000006.12:g.72182554A>T, NC_000006.11:g.72892257A>G, NC_000006.11:g.72892257A>T, NG_016209.1:g.300608A>G, NG_016209.1:g.300608A>T, NM_014989.7:c.1083A>G, NM_014989.7:c.1083A>T, NM_014989.6:c.1083A>G, NM_014989.6:c.1083A>T, NM_014989.5:c.1083A>G, NM_014989.5:c.1083A>T, XM_011535604.4:c.1083A>G, XM_011535604.4:c.1083A>T, XM_011535604.3:c.1083A>G, XM_011535604.3:c.1083A>T, XM_011535604.2:c.1083A>G, XM_011535604.2:c.1083A>T, XM_017010516.3:c.1083A>G, XM_017010516.3:c.1083A>T, XM_017010516.2:c.1083A>G, XM_017010516.2:c.1083A>T, XM_017010516.1:c.1083A>G, XM_017010516.1:c.1083A>T, XM_017010517.3:c.1083A>G, XM_017010517.3:c.1083A>T, XM_017010517.2:c.1083A>G, XM_017010517.2:c.1083A>T, XM_017010517.1:c.1083A>G, XM_017010517.1:c.1083A>T, XM_017010518.3:c.1083A>G, XM_017010518.3:c.1083A>T, XM_017010518.2:c.1083A>G, XM_017010518.2:c.1083A>T, XM_017010518.1:c.1083A>G, XM_017010518.1:c.1083A>T, XM_017010519.3:c.1083A>G, XM_017010519.3:c.1083A>T, XM_017010519.2:c.1083A>G, XM_017010519.2:c.1083A>T, XM_017010519.1:c.1083A>G, XM_017010519.1:c.1083A>T, XM_017010520.3:c.1083A>G, XM_017010520.3:c.1083A>T, XM_017010520.2:c.1083A>G, XM_017010520.2:c.1083A>T, XM_017010520.1:c.1083A>G, XM_017010520.1:c.1083A>T, XM_017010521.3:c.1083A>G, XM_017010521.3:c.1083A>T, XM_017010521.2:c.1083A>G, XM_017010521.2:c.1083A>T, XM_017010521.1:c.1083A>G, XM_017010521.1:c.1083A>T, XM_017010522.3:c.1083A>G, XM_017010522.3:c.1083A>T, XM_017010522.2:c.1083A>G, XM_017010522.2:c.1083A>T, XM_017010522.1:c.1083A>G, XM_017010522.1:c.1083A>T, XM_017010525.3:c.1083A>G, XM_017010525.3:c.1083A>T, XM_017010525.2:c.1083A>G, XM_017010525.2:c.1083A>T, XM_017010525.1:c.1083A>G, XM_017010525.1:c.1083A>T, XM_024446369.2:c.1083A>G, XM_024446369.2:c.1083A>T, XM_024446369.1:c.1083A>G, XM_024446369.1:c.1083A>T, XM_047418416.1:c.1083A>G, XM_047418416.1:c.1083A>T, XM_047418417.1:c.1071A>G, XM_047418417.1:c.1071A>T, XM_047418418.1:c.1071A>G, XM_047418418.1:c.1071A>T, XM_047418419.1:c.1083A>G, XM_047418419.1:c.1083A>T, XM_047418420.1:c.990A>G, XM_047418420.1:c.990A>T, XM_047418421.1:c.1083A>G, XM_047418421.1:c.1083A>T, XM_047418422.1:c.990A>G, XM_047418422.1:c.990A>T, XM_047418423.1:c.1071A>G, XM_047418423.1:c.1071A>T, XM_047418424.1:c.990A>G, XM_047418424.1:c.990A>T, XM_047418425.1:c.990A>G, XM_047418425.1:c.990A>T, XM_047418426.1:c.990A>G, XM_047418426.1:c.990A>T

Select item 28075194.

rs2807519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:72235789 (GRCh38)
6:72945492 (GRCh37)
Canonical SPDI:: NC_000006.12:72235788:C:G,NC_000006.12:72235788:C:T
Gene:: RIMS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.394521/8382 (ALFA)
C=0.009825/18 (Korea1K)
C=0.016382/48 (KOREAN)
C=0.017269/289 (TOMMO)
C=0.042453/9 (Vietnamese)
C=0.134615/7 (Siberian)
C=0.160079/81 (SGDP_PRJ)
C=0.239683/453 (HapMap)
C=0.241099/1207 (1000Genomes)
C=0.332075/87897 (TOPMED)
C=0.34/204 (NorthernSweden)
C=0.351715/49181 (GnomAD)
C=0.36067/409 (Daghestan)
C=0.365741/79 (Qatari)
C=0.400893/1796 (Estonian)
C=0.40192/1549 (ALSPAC)
C=0.402643/1493 (TWINSUK)
C=0.40824/218 (MGP)
C=0.438878/438 (GoNL)
C=0.45/18 (GENOME_DK)
HGVS:: NC_000006.12:g.72235789C>G, NC_000006.12:g.72235789C>T, NC_000006.11:g.72945492C>G, NC_000006.11:g.72945492C>T, NG_016209.1:g.353843C>G, NG_016209.1:g.353843C>T

Select item 28157365.

rs2815736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:72401752 (GRCh38)
6:73111454 (GRCh37)
Canonical SPDI:: NC_000006.12:72401751:A:G
Gene:: RIMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.482527/98061 (ALFA)
G=0.128275/235 (Korea1K)
G=0.152912/2563 (TOMMO)
G=0.158111/462 (KOREAN)
G=0.200935/43 (Vietnamese)
A=0.301205/100 (SGDP_PRJ)
A=0.3125/10 (Siberian)
A=0.372093/32 (PRJEB36033)
G=0.419308/873 (HGDP_Stanford)
G=0.440741/833 (HapMap)
G=0.444722/2227 (1000Genomes)
G=0.452525/35611 (PAGE_STUDY)
A=0.459364/520 (Daghestan)
A=0.471413/1748 (TWINSUK)
A=0.47191/252 (MGP)
A=0.472222/102 (Qatari)
A=0.478721/67043 (GnomAD)
A=0.479502/1848 (ALSPAC)
A=0.47996/479 (GoNL)
A=0.481667/289 (NorthernSweden)
G=0.484152/2169 (Estonian)
A=0.492701/130413 (TOPMED)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000006.12:g.72401752A>G, NC_000006.11:g.73111454A>G, NG_016209.1:g.519805A>G, NM_014989.7:c.*1038A>G, NM_014989.6:c.*1038A>G, NM_014989.5:c.*1038A>G, NM_001350436.2:c.*1038A>G, NM_001350436.1:c.*1038A>G, NM_001350446.2:c.*1038A>G, NM_001350446.1:c.*1038A>G, NM_001350456.2:c.*1038A>G, NM_001350456.1:c.*1038A>G, NM_001350420.2:c.*1038A>G, NM_001350420.1:c.*1038A>G, NM_001350437.2:c.*1038A>G, NM_001350437.1:c.*1038A>G, NM_001350431.2:c.*1038A>G, NM_001350431.1:c.*1038A>G, NM_001350433.2:c.*1038A>G, NM_001350433.1:c.*1038A>G, NM_001350415.2:c.*1038A>G, NM_001350415.1:c.*1038A>G, NM_001350459.2:c.*1038A>G, NM_001350459.1:c.*1038A>G, NM_001350421.2:c.*1038A>G, NM_001350421.1:c.*1038A>G, NM_001350458.2:c.*1038A>G, NM_001350458.1:c.*1038A>G, NM_001350416.2:c.*1038A>G, NM_001350416.1:c.*1038A>G, NM_001350448.2:c.*1038A>G, NM_001350448.1:c.*1038A>G, NM_001168407.2:c.*1038A>G, NM_001168407.1:c.*1038A>G, NM_001350462.2:c.*1038A>G, NM_001350462.1:c.*1038A>G, NM_001350418.2:c.*1038A>G, NM_001350418.1:c.*1038A>G, NM_001350471.2:c.*1038A>G, NM_001350471.1:c.*1038A>G, NM_001350414.2:c.*1038A>G, NM_001350414.1:c.*1038A>G, NM_001350425.2:c.*1038A>G, NM_001350425.1:c.*1038A>G, NM_001350435.2:c.*1038A>G, NM_001350435.1:c.*1038A>G, NM_001350457.2:c.*1038A>G, NM_001350457.1:c.*1038A>G, NM_001350439.2:c.*1038A>G, NM_001350439.1:c.*1038A>G, NM_001350441.2:c.*1038A>G, NM_001350441.1:c.*1038A>G, NM_001350454.2:c.*1038A>G, NM_001350454.1:c.*1038A>G, NM_001350443.2:c.*1038A>G, NM_001350443.1:c.*1038A>G, NM_001350460.2:c.*1038A>G, NM_001350460.1:c.*1038A>G, NM_001350447.2:c.*1038A>G, NM_001350447.1:c.*1038A>G, NM_001350469.2:c.*1038A>G, NM_001350469.1:c.*1038A>G, NM_001350429.2:c.*1038A>G, NM_001350429.1:c.*1038A>G, NM_001350444.2:c.*1038A>G, NM_001350444.1:c.*1038A>G, NM_001350461.2:c.*1038A>G, NM_001350461.1:c.*1038A>G, NM_001350474.2:c.*1038A>G, NM_001350474.1:c.*1038A>G, NM_001350423.2:c.*1038A>G, NM_001350423.1:c.*1038A>G, NM_001350466.2:c.*1038A>G, NM_001350466.1:c.*1038A>G, NM_001350464.2:c.*1038A>G, NM_001350464.1:c.*1038A>G, NM_001350463.2:c.*1038A>G, NM_001350463.1:c.*1038A>G, NM_001350442.2:c.*1038A>G, NM_001350442.1:c.*1038A>G, NM_001350438.2:c.*1038A>G, NM_001350438.1:c.*1038A>G, NM_001350467.2:c.*1038A>G, NM_001350467.1:c.*1038A>G, NM_001350428.2:c.*1038A>G, NM_001350428.1:c.*1038A>G, NM_001350430.2:c.*1038A>G, NM_001350430.1:c.*1038A>G, NM_001350445.2:c.*1038A>G, NM_001350445.1:c.*1038A>G, NM_001350468.2:c.*1038A>G, NM_001350468.1:c.*1038A>G, NM_001350434.2:c.*1038A>G, NM_001350434.1:c.*1038A>G, NM_001350424.2:c.*1038A>G, NM_001350424.1:c.*1038A>G, NM_001350450.2:c.*1038A>G, NM_001350450.1:c.*1038A>G, NM_001350417.2:c.*1038A>G, NM_001350417.1:c.*1038A>G, NM_001350422.2:c.*1038A>G, NM_001350422.1:c.*1038A>G, NM_001350470.2:c.*1038A>G, NM_001350470.1:c.*1038A>G, NM_001168410.2:c.*1038A>G, NM_001168410.1:c.*1038A>G, NM_001168408.2:c.*1038A>G, NM_001168408.1:c.*1038A>G, NM_001350427.2:c.*1038A>G, NM_001350427.1:c.*1038A>G, NM_001350449.2:c.*1038A>G, NM_001350449.1:c.*1038A>G, NM_001350473.2:c.*1038A>G, NM_001350473.1:c.*1038A>G, NM_001350472.2:c.*1038A>G, NM_001350472.1:c.*1038A>G, NM_001350426.2:c.*1038A>G, NM_001350426.1:c.*1038A>G, NM_001350440.2:c.*1038A>G, NM_001350440.1:c.*1038A>G, NM_001350432.2:c.*1038A>G, NM_001350432.1:c.*1038A>G, NM_001168409.2:c.*1038A>G, NM_001168409.1:c.*1038A>G, NM_001350455.2:c.*1038A>G, NM_001350455.1:c.*1038A>G, NM_001350419.2:c.*1038A>G, NM_001350419.1:c.*1038A>G, NM_001350465.2:c.*1038A>G, NM_001350465.1:c.*1038A>G, NM_001168411.2:c.*1038A>G, NM_001168411.1:c.*1038A>G, XM_011535604.4:c.*1038A>G, XM_011535604.3:c.*1038A>G, XM_011535604.2:c.*1038A>G, XM_011535604.1:c.*1038A>G, XM_017010516.3:c.*1038A>G, XM_017010516.2:c.*1038A>G, XM_017010516.1:c.*1038A>G, XM_017010517.3:c.*1038A>G, XM_017010517.2:c.*1038A>G, XM_017010517.1:c.*1038A>G, XM_017010518.3:c.*1038A>G, XM_017010518.2:c.*1038A>G, XM_017010518.1:c.*1038A>G, XM_017010519.3:c.*1038A>G, XM_017010519.2:c.*1038A>G, XM_017010519.1:c.*1038A>G, XM_017010520.3:c.*1038A>G, XM_017010520.2:c.*1038A>G, XM_017010520.1:c.*1038A>G, XM_017010521.3:c.*1038A>G, XM_017010521.2:c.*1038A>G, XM_017010521.1:c.*1038A>G, XM_017010522.3:c.*1038A>G, XM_017010522.2:c.*1038A>G, XM_017010522.1:c.*1038A>G, XM_017010525.3:c.*1038A>G, XM_017010525.2:c.*1038A>G, XM_017010525.1:c.*1038A>G, XM_017010537.3:c.*1038A>G, XM_017010537.2:c.*1038A>G, XM_017010537.1:c.*1038A>G, XM_017010544.3:c.*1038A>G, XM_017010544.2:c.*1038A>G, XM_017010544.1:c.*1038A>G, XM_017010546.3:c.*1038A>G, XM_017010546.2:c.*1038A>G, XM_017010546.1:c.*1038A>G, XM_024446369.2:c.*1038A>G, XM_024446369.1:c.*1038A>G, XM_024446372.2:c.*1038A>G, XM_024446372.1:c.*1038A>G, XM_047418416.1:c.*1038A>G, XM_047418417.1:c.*1038A>G, XM_047418418.1:c.*1038A>G, XM_047418419.1:c.*1038A>G, XM_047418420.1:c.*1038A>G, XM_047418421.1:c.*1038A>G, XM_047418422.1:c.*1038A>G, XM_047418423.1:c.*1038A>G, XM_047418424.1:c.*1038A>G, XM_047418425.1:c.*1038A>G, XM_047418426.1:c.*1038A>G

Select item 28157386.

rs2815738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:72392740 (GRCh38)
6:73102442 (GRCh37)
Canonical SPDI:: NC_000006.12:72392739:C:A,NC_000006.12:72392739:C:G,NC_000006.12:72392739:C:T
Gene:: RIMS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.229969/14242 (ALFA)
T=0.011463/21 (Korea1K)
T=0.018823/55 (KOREAN)
T=0.018933/317 (TOMMO)
T=0.02443/15 (Vietnamese)
T=0.143739/11312 (PAGE_STUDY)
T=0.145213/273 (HapMap)
T=0.158963/796 (1000Genomes)
T=0.174664/364 (HGDP_Stanford)
T=0.189444/50144 (TOPMED)
T=0.194444/42 (Qatari)
T=0.20033/28031 (GnomAD)
T=0.208903/52052 (GnomAD_exomes)
T=0.212416/25648 (ExAC)
T=0.213494/2544 (GoESP)
T=0.215402/965 (Estonian)
T=0.225/9 (GENOME_DK)
T=0.226592/121 (MGP)
T=0.226667/136 (NorthernSweden)
T=0.234821/905 (ALSPAC)
T=0.239479/239 (GoNL)
T=0.247303/917 (TWINSUK)
T=0.266447/81 (FINRISK)
T=0.351351/26 (PRJEB36033)
C=0.4/4 (Siberian)
C=0.45/81 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72392740C>A, NC_000006.12:g.72392740C>G, NC_000006.12:g.72392740C>T, NC_000006.11:g.73102442C>A, NC_000006.11:g.73102442C>G, NC_000006.11:g.73102442C>T, NG_016209.1:g.510793C>A, NG_016209.1:g.510793C>G, NG_016209.1:g.510793C>T, NM_014989.7:c.4548C>A, NM_014989.7:c.4548C>G, NM_014989.7:c.4548C>T, NM_014989.6:c.4548C>A, NM_014989.6:c.4548C>G, NM_014989.6:c.4548C>T, NM_014989.5:c.4548C>A, NM_014989.5:c.4548C>G, NM_014989.5:c.4548C>T, NM_001350436.2:c.2700C>A, NM_001350436.2:c.2700C>G, NM_001350436.2:c.2700C>T, NM_001350436.1:c.2700C>A, NM_001350436.1:c.2700C>G, NM_001350436.1:c.2700C>T, NM_001350446.2:c.2694C>A, NM_001350446.2:c.2694C>G, NM_001350446.2:c.2694C>T, NM_001350446.1:c.2694C>A, NM_001350446.1:c.2694C>G, NM_001350446.1:c.2694C>T, NM_001350456.2:c.2691C>A, NM_001350456.2:c.2691C>G, NM_001350456.2:c.2691C>T, NM_001350456.1:c.2691C>A, NM_001350456.1:c.2691C>G, NM_001350456.1:c.2691C>T, NM_001350420.2:c.2622C>A, NM_001350420.2:c.2622C>G, NM_001350420.2:c.2622C>T, NM_001350420.1:c.2622C>A, NM_001350420.1:c.2622C>G, NM_001350420.1:c.2622C>T, NM_001350437.2:c.2451C>A, NM_001350437.2:c.2451C>G, NM_001350437.2:c.2451C>T, NM_001350437.1:c.2451C>A, NM_001350437.1:c.2451C>G, NM_001350437.1:c.2451C>T, NM_001350431.2:c.2604C>A, NM_001350431.2:c.2604C>G, NM_001350431.2:c.2604C>T, NM_001350431.1:c.2604C>A, NM_001350431.1:c.2604C>G, NM_001350431.1:c.2604C>T, NM_001350433.2:c.2595C>A, NM_001350433.2:c.2595C>G, NM_001350433.2:c.2595C>T, NM_001350433.1:c.2595C>A, NM_001350433.1:c.2595C>G, NM_001350433.1:c.2595C>T, NM_001350415.2:c.2565C>A, NM_001350415.2:c.2565C>G, NM_001350415.2:c.2565C>T, NM_001350415.1:c.2565C>A, NM_001350415.1:c.2565C>G, NM_001350415.1:c.2565C>T, NM_001350459.2:c.2370C>A, NM_001350459.2:c.2370C>G, NM_001350459.2:c.2370C>T, NM_001350459.1:c.2370C>A, NM_001350459.1:c.2370C>G, NM_001350459.1:c.2370C>T, NM_001350421.2:c.2367C>A, NM_001350421.2:c.2367C>G, NM_001350421.2:c.2367C>T, NM_001350421.1:c.2367C>A, NM_001350421.1:c.2367C>G, NM_001350421.1:c.2367C>T, NM_001350458.2:c.2517C>A, NM_001350458.2:c.2517C>G, NM_001350458.2:c.2517C>T, NM_001350458.1:c.2517C>A, NM_001350458.1:c.2517C>G, NM_001350458.1:c.2517C>T, NM_001350416.2:c.2514C>A, NM_001350416.2:c.2514C>G, NM_001350416.2:c.2514C>T, NM_001350416.1:c.2514C>A, NM_001350416.1:c.2514C>G, NM_001350416.1:c.2514C>T, NM_001350448.2:c.2511C>A, NM_001350448.2:c.2511C>G, NM_001350448.2:c.2511C>T, NM_001350448.1:c.2511C>A, NM_001350448.1:c.2511C>G, NM_001350448.1:c.2511C>T, NM_001168407.2:c.2508C>A, NM_001168407.2:c.2508C>G, NM_001168407.2:c.2508C>T, NM_001168407.1:c.2508C>A, NM_001168407.1:c.2508C>G, NM_001168407.1:c.2508C>T, NM_001350462.2:c.2553C>A, NM_001350462.2:c.2553C>G, NM_001350462.2:c.2553C>T, NM_001350462.1:c.2553C>A, NM_001350462.1:c.2553C>G, NM_001350462.1:c.2553C>T, NM_001350418.2:c.2487C>A, NM_001350418.2:c.2487C>G, NM_001350418.2:c.2487C>T, NM_001350418.1:c.2487C>A, NM_001350418.1:c.2487C>G, NM_001350418.1:c.2487C>T, NM_001350471.2:c.2349C>A, NM_001350471.2:c.2349C>G, NM_001350471.2:c.2349C>T, NM_001350471.1:c.2349C>A, NM_001350471.1:c.2349C>G, NM_001350471.1:c.2349C>T, NM_001350414.2:c.2469C>A, NM_001350414.2:c.2469C>G, NM_001350414.2:c.2469C>T, NM_001350414.1:c.2469C>A, NM_001350414.1:c.2469C>G, NM_001350414.1:c.2469C>T, NM_001350425.2:c.2466C>A, NM_001350425.2:c.2466C>G, NM_001350425.2:c.2466C>T, NM_001350425.1:c.2466C>A, NM_001350425.1:c.2466C>G, NM_001350425.1:c.2466C>T, NM_001350435.2:c.2457C>A, NM_001350435.2:c.2457C>G, NM_001350435.2:c.2457C>T, NM_001350435.1:c.2457C>A, NM_001350435.1:c.2457C>G, NM_001350435.1:c.2457C>T, NM_001350457.2:c.2448C>A, NM_001350457.2:c.2448C>G, NM_001350457.2:c.2448C>T, NM_001350457.1:c.2448C>A, NM_001350457.1:c.2448C>G, NM_001350457.1:c.2448C>T, NM_001350439.2:c.2439C>A, NM_001350439.2:c.2439C>G, NM_001350439.2:c.2439C>T, NM_001350439.1:c.2439C>A, NM_001350439.1:c.2439C>G, NM_001350439.1:c.2439C>T, NM_001350441.2:c.2436C>A, NM_001350441.2:c.2436C>G, NM_001350441.2:c.2436C>T, NM_001350441.1:c.2436C>A, NM_001350441.1:c.2436C>G, NM_001350441.1:c.2436C>T, NM_001350454.2:c.2418C>A, NM_001350454.2:c.2418C>G, NM_001350454.2:c.2418C>T, NM_001350454.1:c.2418C>A, NM_001350454.1:c.2418C>G, NM_001350454.1:c.2418C>T, NM_001350443.2:c.2409C>A, NM_001350443.2:c.2409C>G, NM_001350443.2:c.2409C>T, NM_001350443.1:c.2409C>A, NM_001350443.1:c.2409C>G, NM_001350443.1:c.2409C>T, NM_001350460.2:c.2388C>A, NM_001350460.2:c.2388C>G, NM_001350460.2:c.2388C>T, NM_001350460.1:c.2388C>A, NM_001350460.1:c.2388C>G, NM_001350460.1:c.2388C>T, NM_001350447.2:c.2355C>A, NM_001350447.2:c.2355C>G, NM_001350447.2:c.2355C>T, NM_001350447.1:c.2355C>A, NM_001350447.1:c.2355C>G, NM_001350447.1:c.2355C>T, NM_001350469.2:c.2268C>A, NM_001350469.2:c.2268C>G, NM_001350469.2:c.2268C>T, NM_001350469.1:c.2268C>A, NM_001350469.1:c.2268C>G, NM_001350469.1:c.2268C>T, NM_001350429.2:c.2286C>A, NM_001350429.2:c.2286C>G, NM_001350429.2:c.2286C>T, NM_001350429.1:c.2286C>A, NM_001350429.1:c.2286C>G, NM_001350429.1:c.2286C>T, NM_001350444.2:c.2283C>A, NM_001350444.2:c.2283C>G, NM_001350444.2:c.2283C>T, NM_001350444.1:c.2283C>A, NM_001350444.1:c.2283C>G, NM_001350444.1:c.2283C>T, NM_001350461.2:c.2238C>A, NM_001350461.2:c.2238C>G, NM_001350461.2:c.2238C>T, NM_001350461.1:c.2238C>A, NM_001350461.1:c.2238C>G, NM_001350461.1:c.2238C>T, NM_001350474.2:c.2241C>A, NM_001350474.2:c.2241C>G, NM_001350474.2:c.2241C>T, NM_001350474.1:c.2241C>A, NM_001350474.1:c.2241C>G, NM_001350474.1:c.2241C>T, NM_001350423.2:c.2256C>A, NM_001350423.2:c.2256C>G, NM_001350423.2:c.2256C>T, NM_001350423.1:c.2256C>A, NM_001350423.1:c.2256C>G, NM_001350423.1:c.2256C>T, NM_001350466.2:c.2199C>A, NM_001350466.2:c.2199C>G, NM_001350466.2:c.2199C>T, NM_001350466.1:c.2199C>A, NM_001350466.1:c.2199C>G, NM_001350466.1:c.2199C>T, NM_001350464.2:c.2196C>A, NM_001350464.2:c.2196C>G, NM_001350464.2:c.2196C>T, NM_001350464.1:c.2196C>A, NM_001350464.1:c.2196C>G, NM_001350464.1:c.2196C>T, NM_001350463.2:c.2193C>A, NM_001350463.2:c.2193C>G, NM_001350463.2:c.2193C>T, NM_001350463.1:c.2193C>A, NM_001350463.1:c.2193C>G, NM_001350463.1:c.2193C>T, NM_001350442.2:c.2178C>A, NM_001350442.2:c.2178C>G, NM_001350442.2:c.2178C>T, NM_001350442.1:c.2178C>A, NM_001350442.1:c.2178C>G, NM_001350442.1:c.2178C>T, NM_001350438.2:c.2175C>A, NM_001350438.2:c.2175C>G, NM_001350438.2:c.2175C>T, NM_001350438.1:c.2175C>A, NM_001350438.1:c.2175C>G, NM_001350438.1:c.2175C>T, NM_001350467.2:c.2115C>A, NM_001350467.2:c.2115C>G, NM_001350467.2:c.2115C>T, NM_001350467.1:c.2115C>A, NM_001350467.1:c.2115C>G, NM_001350467.1:c.2115C>T, NM_001350428.2:c.1926C>A, NM_001350428.2:c.1926C>G, NM_001350428.2:c.1926C>T, NM_001350428.1:c.1926C>A, NM_001350428.1:c.1926C>G, NM_001350428.1:c.1926C>T, NM_001350430.2:c.1923C>A, NM_001350430.2:c.1923C>G, NM_001350430.2:c.1923C>T, NM_001350430.1:c.1923C>A, NM_001350430.1:c.1923C>G, NM_001350430.1:c.1923C>T, NM_001350445.2:c.2076C>A, NM_001350445.2:c.2076C>G, NM_001350445.2:c.2076C>T, NM_001350445.1:c.2076C>A, NM_001350445.1:c.2076C>G, NM_001350445.1:c.2076C>T, NM_001350468.2:c.2040C>A, NM_001350468.2:c.2040C>G, NM_001350468.2:c.2040C>T, NM_001350468.1:c.2040C>A, NM_001350468.1:c.2040C>G, NM_001350468.1:c.2040C>T, NM_001350434.2:c.2070C>A, NM_001350434.2:c.2070C>G, NM_001350434.2:c.2070C>T, NM_001350434.1:c.2070C>A, NM_001350434.1:c.2070C>G, NM_001350434.1:c.2070C>T, NM_001350424.2:c.1854C>A, NM_001350424.2:c.1854C>G, NM_001350424.2:c.1854C>T, NM_001350424.1:c.1854C>A, NM_001350424.1:c.1854C>G, NM_001350424.1:c.1854C>T, NM_001350450.2:c.1851C>A, NM_001350450.2:c.1851C>G, NM_001350450.2:c.1851C>T, NM_001350450.1:c.1851C>A, NM_001350450.1:c.1851C>G, NM_001350450.1:c.1851C>T, NM_001350417.2:c.1995C>A, NM_001350417.2:c.1995C>G, NM_001350417.2:c.1995C>T, NM_001350417.1:c.1995C>A, NM_001350417.1:c.1995C>G, NM_001350417.1:c.1995C>T, NM_001350422.2:c.1992C>A, NM_001350422.2:c.1992C>G, NM_001350422.2:c.1992C>T, NM_001350422.1:c.1992C>A, NM_001350422.1:c.1992C>G, NM_001350422.1:c.1992C>T, NM_001350470.2:c.1956C>A, NM_001350470.2:c.1956C>G, NM_001350470.2:c.1956C>T, NM_001350470.1:c.1956C>A, NM_001350470.1:c.1956C>G, NM_001350470.1:c.1956C>T, NM_001168410.2:c.1950C>A, NM_001168410.2:c.1950C>G, NM_001168410.2:c.1950C>T, NM_001168410.1:c.1950C>A, NM_001168410.1:c.1950C>G, NM_001168410.1:c.1950C>T, NM_001168408.2:c.1923C>A, NM_001168408.2:c.1923C>G, NM_001168408.2:c.1923C>T, NM_001168408.1:c.1923C>A, NM_001168408.1:c.1923C>G, NM_001168408.1:c.1923C>T, NM_001350427.2:c.1920C>A, NM_001350427.2:c.1920C>G, NM_001350427.2:c.1920C>T, NM_001350427.1:c.1920C>A, NM_001350427.1:c.1920C>G, NM_001350427.1:c.1920C>T, NM_001350449.2:c.1902C>A, NM_001350449.2:c.1902C>G, NM_001350449.2:c.1902C>T, NM_001350449.1:c.1902C>A, NM_001350449.1:c.1902C>G, NM_001350449.1:c.1902C>T, NM_001350473.2:c.1878C>A, NM_001350473.2:c.1878C>G, NM_001350473.2:c.1878C>T, NM_001350473.1:c.1878C>A, NM_001350473.1:c.1878C>G, NM_001350473.1:c.1878C>T, NM_001350472.2:c.1875C>A, NM_001350472.2:c.1875C>G, NM_001350472.2:c.1875C>T, NM_001350472.1:c.1875C>A, NM_001350472.1:c.1875C>G, NM_001350472.1:c.1875C>T, NM_001350426.2:c.1842C>A, NM_001350426.2:c.1842C>G, NM_001350426.2:c.1842C>T, NM_001350426.1:c.1842C>A, NM_001350426.1:c.1842C>G, NM_001350426.1:c.1842C>T, NM_001350440.2:c.1839C>A, NM_001350440.2:c.1839C>G, NM_001350440.2:c.1839C>T, NM_001350440.1:c.1839C>A, NM_001350440.1:c.1839C>G, NM_001350440.1:c.1839C>T, NM_001350432.2:c.1830C>A, NM_001350432.2:c.1830C>G, NM_001350432.2:c.1830C>T, NM_001350432.1:c.1830C>A, NM_001350432.1:c.1830C>G, NM_001350432.1:c.1830C>T, NM_001168409.2:c.1752C>A, NM_001168409.2:c.1752C>G, NM_001168409.2:c.1752C>T, NM_001168409.1:c.1752C>A, NM_001168409.1:c.1752C>G, NM_001168409.1:c.1752C>T, NM_001350455.2:c.1770C>A, NM_001350455.2:c.1770C>G, NM_001350455.2:c.1770C>T, NM_001350455.1:c.1770C>A, NM_001350455.1:c.1770C>G, NM_001350455.1:c.1770C>T, NM_001350419.2:c.1767C>A, NM_001350419.2:c.1767C>G, NM_001350419.2:c.1767C>T, NM_001350419.1:c.1767C>A, NM_001350419.1:c.1767C>G, NM_001350419.1:c.1767C>T, NM_001350465.2:c.1680C>A, NM_001350465.2:c.1680C>G, NM_001350465.2:c.1680C>T, NM_001350465.1:c.1680C>A, NM_001350465.1:c.1680C>G, NM_001350465.1:c.1680C>T, NM_001168411.2:c.129C>A, NM_001168411.2:c.129C>G, NM_001168411.2:c.129C>T, NM_001168411.1:c.129C>A, NM_001168411.1:c.129C>G, NM_001168411.1:c.129C>T, XM_011535604.4:c.4086C>A, XM_011535604.4:c.4086C>G, XM_011535604.4:c.4086C>T, XM_011535604.3:c.4086C>A, XM_011535604.3:c.4086C>G, XM_011535604.3:c.4086C>T, XM_011535604.2:c.4086C>A, XM_011535604.2:c.4086C>G, XM_011535604.2:c.4086C>T, XM_011535604.1:c.2505C>A, XM_011535604.1:c.2505C>G, XM_011535604.1:c.2505C>T, XM_017010516.3:c.4335C>A, XM_017010516.3:c.4335C>G, XM_017010516.3:c.4335C>T, XM_017010516.2:c.4335C>A, XM_017010516.2:c.4335C>G, XM_017010516.2:c.4335C>T, XM_017010516.1:c.4335C>A, XM_017010516.1:c.4335C>G, XM_017010516.1:c.4335C>T, XM_017010517.3:c.4242C>A, XM_017010517.3:c.4242C>G, XM_017010517.3:c.4242C>T, XM_017010517.2:c.4242C>A, XM_017010517.2:c.4242C>G, XM_017010517.2:c.4242C>T, XM_017010517.1:c.4242C>A, XM_017010517.1:c.4242C>G, XM_017010517.1:c.4242C>T, XM_017010518.3:c.4239C>A, XM_017010518.3:c.4239C>G, XM_017010518.3:c.4239C>T, XM_017010518.2:c.4239C>A, XM_017010518.2:c.4239C>G, XM_017010518.2:c.4239C>T, XM_017010518.1:c.4239C>A, XM_017010518.1:c.4239C>G, XM_017010518.1:c.4239C>T, XM_017010519.3:c.4182C>A, XM_017010519.3:c.4182C>G, XM_017010519.3:c.4182C>T, XM_017010519.2:c.4182C>A, XM_017010519.2:c.4182C>G, XM_017010519.2:c.4182C>T, XM_017010519.1:c.4182C>A, XM_017010519.1:c.4182C>G, XM_017010519.1:c.4182C>T, XM_017010520.3:c.4170C>A, XM_017010520.3:c.4170C>G, XM_017010520.3:c.4170C>T, XM_017010520.2:c.4170C>A, XM_017010520.2:c.4170C>G, XM_017010520.2:c.4170C>T, XM_017010520.1:c.4170C>A, XM_017010520.1:c.4170C>G, XM_017010520.1:c.4170C>T, XM_017010521.3:c.4152C>A, XM_017010521.3:c.4152C>G, XM_017010521.3:c.4152C>T, XM_017010521.2:c.4152C>A, XM_017010521.2:c.4152C>G, XM_017010521.2:c.4152C>T, XM_017010521.1:c.4152C>A, XM_017010521.1:c.4152C>G, XM_017010521.1:c.4152C>T, XM_017010522.3:c.4089C>A, XM_017010522.3:c.4089C>G, XM_017010522.3:c.4089C>T, XM_017010522.2:c.4089C>A, XM_017010522.2:c.4089C>G, XM_017010522.2:c.4089C>T, XM_017010522.1:c.4089C>A, XM_017010522.1:c.4089C>G, XM_017010522.1:c.4089C>T, XM_017010525.3:c.4029C>A, XM_017010525.3:c.4029C>G, XM_017010525.3:c.4029C>T, XM_017010525.2:c.4029C>A, XM_017010525.2:c.4029C>G, XM_017010525.2:c.4029C>T, XM_017010525.1:c.4029C>A, XM_017010525.1:c.4029C>G, XM_017010525.1:c.4029C>T, XM_017010537.3:c.2592C>A, XM_017010537.3:c.2592C>G, XM_017010537.3:c.2592C>T, XM_017010537.2:c.2592C>A, XM_017010537.2:c.2592C>G, XM_017010537.2:c.2592C>T, XM_017010537.1:c.2592C>A, XM_017010537.1:c.2592C>G, XM_017010537.1:c.2592C>T, XM_017010544.3:c.2436C>A, XM_017010544.3:c.2436C>G, XM_017010544.3:c.2436C>T, XM_017010544.2:c.2436C>A, XM_017010544.2:c.2436C>G, XM_017010544.2:c.2436C>T, XM_017010544.1:c.2436C>A, XM_017010544.1:c.2436C>G, XM_017010544.1:c.2436C>T, XM_017010546.3:c.2412C>A, XM_017010546.3:c.2412C>G, XM_017010546.3:c.2412C>T, XM_017010546.2:c.2412C>A, XM_017010546.2:c.2412C>G, XM_017010546.2:c.2412C>T, XM_017010546.1:c.2412C>A, XM_017010546.1:c.2412C>G, XM_017010546.1:c.2412C>T, XM_024446369.2:c.4422C>A, XM_024446369.2:c.4422C>G, XM_024446369.2:c.4422C>T, XM_024446369.1:c.4422C>A, XM_024446369.1:c.4422C>G, XM_024446369.1:c.4422C>T, XM_024446372.2:c.2589C>A, XM_024446372.2:c.2589C>G, XM_024446372.2:c.2589C>T, XM_024446372.1:c.2589C>A, XM_024446372.1:c.2589C>G, XM_024446372.1:c.2589C>T, XM_047418416.1:c.4263C>A, XM_047418416.1:c.4263C>G, XM_047418416.1:c.4263C>T, XM_047418417.1:c.4140C>A, XM_047418417.1:c.4140C>G, XM_047418417.1:c.4140C>T, XM_047418418.1:c.4137C>A, XM_047418418.1:c.4137C>G, XM_047418418.1:c.4137C>T, XM_047418419.1:c.4119C>A, XM_047418419.1:c.4119C>G, XM_047418419.1:c.4119C>T, XM_047418420.1:c.4059C>A, XM_047418420.1:c.4059C>G, XM_047418420.1:c.4059C>T, XM_047418421.1:c.4026C>A, XM_047418421.1:c.4026C>G, XM_047418421.1:c.4026C>T, XM_047418422.1:c.3987C>A, XM_047418422.1:c.3987C>G, XM_047418422.1:c.3987C>T, XM_047418423.1:c.3945C>A, XM_047418423.1:c.3945C>G, XM_047418423.1:c.3945C>T, XM_047418424.1:c.3933C>A, XM_047418424.1:c.3933C>G, XM_047418424.1:c.3933C>T, XM_047418425.1:c.3864C>A, XM_047418425.1:c.3864C>G, XM_047418425.1:c.3864C>T, XM_047418426.1:c.3387C>A, XM_047418426.1:c.3387C>G, XM_047418426.1:c.3387C>T, NP_055804.2:p.Phe1516Leu, NP_055804.2:p.Phe1516Leu, NP_001337365.1:p.Phe900Leu, NP_001337365.1:p.Phe900Leu, NP_001337375.1:p.Phe898Leu, NP_001337375.1:p.Phe898Leu, NP_001337385.1:p.Phe897Leu, NP_001337385.1:p.Phe897Leu, NP_001337349.1:p.Phe874Leu, NP_001337349.1:p.Phe874Leu, NP_001337366.1:p.Phe817Leu, NP_001337366.1:p.Phe817Leu, NP_001337360.1:p.Phe868Leu, NP_001337360.1:p.Phe868Leu, NP_001337362.1:p.Phe865Leu, NP_001337362.1:p.Phe865Leu, NP_001337344.1:p.Phe855Leu, NP_001337344.1:p.Phe855Leu, NP_001337388.1:p.Phe790Leu, NP_001337388.1:p.Phe790Leu, NP_001337350.1:p.Phe789Leu, NP_001337350.1:p.Phe789Leu, NP_001337387.1:p.Phe839Leu, NP_001337387.1:p.Phe839Leu, NP_001337345.1:p.Phe838Leu, NP_001337345.1:p.Phe838Leu, NP_001337377.1:p.Phe837Leu, NP_001337377.1:p.Phe837Leu, NP_001161879.1:p.Phe836Leu, NP_001161879.1:p.Phe836Leu, NP_001337391.1:p.Phe851Leu, NP_001337391.1:p.Phe851Leu, NP_001337347.1:p.Phe829Leu, NP_001337347.1:p.Phe829Leu, NP_001337400.1:p.Phe783Leu, NP_001337400.1:p.Phe783Leu, NP_001337343.1:p.Phe823Leu, NP_001337343.1:p.Phe823Leu, NP_001337354.1:p.Phe822Leu, NP_001337354.1:p.Phe822Leu, NP_001337364.1:p.Phe819Leu, NP_001337364.1:p.Phe819Leu, NP_001337386.1:p.Phe816Leu, NP_001337386.1:p.Phe816Leu, NP_001337368.1:p.Phe813Leu, NP_001337368.1:p.Phe813Leu, NP_001337370.1:p.Phe812Leu, NP_001337370.1:p.Phe812Leu, NP_001337383.1:p.Phe806Leu, NP_001337383.1:p.Phe806Leu, NP_001337372.1:p.Phe803Leu, NP_001337372.1:p.Phe803Leu, NP_001337389.1:p.Phe796Leu, NP_001337389.1:p.Phe796Leu, NP_001337376.1:p.Phe785Leu, NP_001337376.1:p.Phe785Leu, NP_001337398.1:p.Phe756Leu, NP_001337398.1:p.Phe756Leu, NP_001337358.1:p.Phe762Leu, NP_001337358.1:p.Phe762Leu, NP_001337373.1:p.Phe761Leu, NP_001337373.1:p.Phe761Leu, NP_001337390.1:p.Phe746Leu, NP_001337390.1:p.Phe746Leu, NP_001337403.1:p.Phe747Leu, NP_001337403.1:p.Phe747Leu, NP_001337352.1:p.Phe752Leu, NP_001337352.1:p.Phe752Leu, NP_001337395.1:p.Phe733Leu, NP_001337395.1:p.Phe733Leu, NP_001337393.1:p.Phe732Leu, NP_001337393.1:p.Phe732Leu, NP_001337392.1:p.Phe731Leu, NP_001337392.1:p.Phe731Leu, NP_001337371.1:p.Phe726Leu, NP_001337371.1:p.Phe726Leu, NP_001337367.1:p.Phe725Leu, NP_001337367.1:p.Phe725Leu, NP_001337396.1:p.Phe705Leu, NP_001337396.1:p.Phe705Leu, NP_001337357.1:p.Phe642Leu, NP_001337357.1:p.Phe642Leu, NP_001337359.1:p.Phe641Leu, NP_001337359.1:p.Phe641Leu, NP_001337374.1:p.Phe692Leu, NP_001337374.1:p.Phe692Leu, NP_001337397.1:p.Phe680Leu, NP_001337397.1:p.Phe680Leu, NP_001337363.1:p.Phe690Leu, NP_001337363.1:p.Phe690Leu, NP_001337353.1:p.Phe618Leu, NP_001337353.1:p.Phe618Leu, NP_001337379.1:p.Phe617Leu, NP_001337379.1:p.Phe617Leu, NP_001337346.1:p.Phe665Leu, NP_001337346.1:p.Phe665Leu, NP_001337351.1:p.Phe664Leu, NP_001337351.1:p.Phe664Leu, NP_001337399.1:p.Phe652Leu, NP_001337399.1:p.Phe652Leu, NP_001161882.1:p.Phe650Leu, NP_001161882.1:p.Phe650Leu, NP_001161880.1:p.Phe641Leu, NP_001161880.1:p.Phe641Leu, NP_001337356.1:p.Phe640Leu, NP_001337356.1:p.Phe640Leu, NP_001337378.1:p.Phe634Leu, NP_001337378.1:p.Phe634Leu, NP_001337402.1:p.Phe626Leu, NP_001337402.1:p.Phe626Leu, NP_001337401.1:p.Phe625Leu, NP_001337401.1:p.Phe625Leu, NP_001337355.1:p.Phe614Leu, NP_001337355.1:p.Phe614Leu, NP_001337369.1:p.Phe613Leu, NP_001337369.1:p.Phe613Leu, NP_001337361.1:p.Phe610Leu, NP_001337361.1:p.Phe610Leu, NP_001161881.1:p.Phe584Leu, NP_001161881.1:p.Phe584Leu, NP_001337384.1:p.Phe590Leu, NP_001337384.1:p.Phe590Leu, NP_001337348.1:p.Phe589Leu, NP_001337348.1:p.Phe589Leu, NP_001337394.1:p.Phe560Leu, NP_001337394.1:p.Phe560Leu, NP_001161883.1:p.Phe43Leu, NP_001161883.1:p.Phe43Leu, XP_011533906.2:p.Phe1362Leu, XP_011533906.2:p.Phe1362Leu, XP_016866005.1:p.Phe1445Leu, XP_016866005.1:p.Phe1445Leu, XP_016866006.1:p.Phe1414Leu, XP_016866006.1:p.Phe1414Leu, XP_016866007.1:p.Phe1413Leu, XP_016866007.1:p.Phe1413Leu, XP_016866008.1:p.Phe1394Leu, XP_016866008.1:p.Phe1394Leu, XP_016866009.1:p.Phe1390Leu, XP_016866009.1:p.Phe1390Leu, XP_016866010.1:p.Phe1384Leu, XP_016866010.1:p.Phe1384Leu, XP_016866011.1:p.Phe1363Leu, XP_016866011.1:p.Phe1363Leu, XP_016866014.1:p.Phe1343Leu, XP_016866014.1:p.Phe1343Leu, XP_016866026.1:p.Phe864Leu, XP_016866026.1:p.Phe864Leu, XP_016866033.1:p.Phe812Leu, XP_016866033.1:p.Phe812Leu, XP_016866035.1:p.Phe804Leu, XP_016866035.1:p.Phe804Leu, XP_024302137.1:p.Phe1474Leu, XP_024302137.1:p.Phe1474Leu, XP_024302140.1:p.Phe863Leu, XP_024302140.1:p.Phe863Leu, XP_047274372.1:p.Phe1421Leu, XP_047274372.1:p.Phe1421Leu, XP_047274373.1:p.Phe1380Leu, XP_047274373.1:p.Phe1380Leu, XP_047274374.1:p.Phe1379Leu, XP_047274374.1:p.Phe1379Leu, XP_047274375.1:p.Phe1373Leu, XP_047274375.1:p.Phe1373Leu, XP_047274376.1:p.Phe1353Leu, XP_047274376.1:p.Phe1353Leu, XP_047274377.1:p.Phe1342Leu, XP_047274377.1:p.Phe1342Leu, XP_047274378.1:p.Phe1329Leu, XP_047274378.1:p.Phe1329Leu, XP_047274379.1:p.Phe1315Leu, XP_047274379.1:p.Phe1315Leu, XP_047274380.1:p.Phe1311Leu, XP_047274380.1:p.Phe1311Leu, XP_047274381.1:p.Phe1288Leu, XP_047274381.1:p.Phe1288Leu, XP_047274382.1:p.Phe1129Leu, XP_047274382.1:p.Phe1129Leu

Select item 69238917.

rs6923891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:72258906 (GRCh38)
6:72968609 (GRCh37)
Canonical SPDI:: NC_000006.12:72258905:C:A,NC_000006.12:72258905:C:T
Gene:: RIMS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.367328/6966 (ALFA)
C=0.009825/18 (Korea1K)
C=0.016382/48 (KOREAN)
C=0.017269/289 (TOMMO)
C=0.046296/10 (Vietnamese)
C=0.134615/7 (Siberian)
C=0.160079/81 (SGDP_PRJ)
C=0.240787/1206 (1000Genomes)
C=0.251572/80 (HapMap)
C=0.330768/87551 (TOPMED)
C=0.338333/203 (NorthernSweden)
C=0.350074/48983 (GnomAD)
C=0.365741/79 (Qatari)
C=0.393973/1765 (Estonian)
C=0.397789/1475 (TWINSUK)
C=0.400104/1542 (ALSPAC)
C=0.402622/215 (MGP)
C=0.433868/433 (GoNL)
C=0.45/18 (GENOME_DK)
HGVS:: NC_000006.12:g.72258906C>A, NC_000006.12:g.72258906C>T, NC_000006.11:g.72968609C>A, NC_000006.11:g.72968609C>T, NG_016209.1:g.376960C>A, NG_016209.1:g.376960C>T

Select item 69258808.

rs6925880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:72274511 (GRCh38)
6:72984214 (GRCh37)
Canonical SPDI:: NC_000006.12:72274510:A:T
Gene:: RIMS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.03892/738 (ALFA)
T=0.011236/6 (MGP)
T=0.014833/55 (TWINSUK)
T=0.016032/16 (GoNL)
T=0.016667/10 (NorthernSweden)
T=0.01875/84 (Estonian)
T=0.018941/73 (ALSPAC)
T=0.023148/5 (Qatari)
T=0.025/1 (GENOME_DK)
T=0.046533/233 (1000Genomes)
T=0.053871/14259 (TOPMED)
T=0.054005/7570 (GnomAD)
T=0.097104/114 (HapMap)
A=0.416667/10 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000006.12:g.72274511A>T, NC_000006.11:g.72984214A>T, NG_016209.1:g.392565A>T

Select item 94427619.

rs9442761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:72259185 (GRCh38)
6:72968888 (GRCh37)
Canonical SPDI:: NC_000006.12:72259184:A:G,NC_000006.12:72259184:A:T
Gene:: RIMS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00312/44 (ALFA)
T=0./0 (TWINSUK)
T=0.000259/1 (ALSPAC)
T=0.001873/1 (MGP)
T=0.019051/95 (1000Genomes)
T=0.020755/2910 (GnomAD)
T=0.021168/5603 (TOPMED)
T=0.023148/5 (Qatari)
T=0.027273/9 (HapMap)
A=0.5/6 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72259185A>G, NC_000006.12:g.72259185A>T, NC_000006.11:g.72968888A>G, NC_000006.11:g.72968888A>T, NG_016209.1:g.377239A>G, NG_016209.1:g.377239A>T

Select item 944660010.

rs9446600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:72213208 (GRCh38)
6:72922911 (GRCh37)
Canonical SPDI:: NC_000006.12:72213207:G:A,NC_000006.12:72213207:G:T
Gene:: RIMS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00211/376 (ALFA)
T=0./0 (ALSPAC)
A=0./0 (PRJEB36033)
T=0.00027/1 (TWINSUK)
A=0.004607/638 (GnomAD_exomes)
A=0.008292/140 (ExAC)
A=0.009259/2 (Qatari)
A=0.020131/2822 (GnomAD)
A=0.021259/5627 (TOPMED)
A=0.022339/102 (GoESP)
A=0.022486/113 (1000Genomes)
A=0.031945/2514 (PAGE_STUDY)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72213208G>A, NC_000006.12:g.72213208G>T, NC_000006.11:g.72922911G>A, NC_000006.11:g.72922911G>T, NG_016209.1:g.331262G>A, NG_016209.1:g.331262G>T, NM_001350436.2:c.86G>A, NM_001350436.2:c.86G>T, NM_001350436.1:c.86G>A, NM_001350436.1:c.86G>T, NM_001350446.2:c.86G>A, NM_001350446.2:c.86G>T, NM_001350446.1:c.86G>A, NM_001350446.1:c.86G>T, NM_001350456.2:c.86G>A, NM_001350456.2:c.86G>T, NM_001350456.1:c.86G>A, NM_001350456.1:c.86G>T, NM_001350420.2:c.86G>A, NM_001350420.2:c.86G>T, NM_001350420.1:c.86G>A, NM_001350420.1:c.86G>T, NM_001350437.2:c.-72G>A, NM_001350437.2:c.-72G>T, NM_001350437.1:c.-72G>A, NM_001350437.1:c.-72G>T, NM_001350431.2:c.86G>A, NM_001350431.2:c.86G>T, NM_001350431.1:c.86G>A, NM_001350431.1:c.86G>T, NM_001350433.2:c.86G>A, NM_001350433.2:c.86G>T, NM_001350433.1:c.86G>A, NM_001350433.1:c.86G>T, NM_001350415.2:c.86G>A, NM_001350415.2:c.86G>T, NM_001350415.1:c.86G>A, NM_001350415.1:c.86G>T, NM_001350459.2:c.-72G>A, NM_001350459.2:c.-72G>T, NM_001350459.1:c.-72G>A, NM_001350459.1:c.-72G>T, NM_001350421.2:c.-72G>A, NM_001350421.2:c.-72G>T, NM_001350421.1:c.-72G>A, NM_001350421.1:c.-72G>T, NM_001350458.2:c.86G>A, NM_001350458.2:c.86G>T, NM_001350458.1:c.86G>A, NM_001350458.1:c.86G>T, NM_001350416.2:c.86G>A, NM_001350416.2:c.86G>T, NM_001350416.1:c.86G>A, NM_001350416.1:c.86G>T, NM_001350448.2:c.86G>A, NM_001350448.2:c.86G>T, NM_001350448.1:c.86G>A, NM_001350448.1:c.86G>T, NM_001168407.2:c.86G>A, NM_001168407.2:c.86G>T, NM_001168407.1:c.86G>A, NM_001168407.1:c.86G>T, NM_001350418.2:c.86G>A, NM_001350418.2:c.86G>T, NM_001350418.1:c.86G>A, NM_001350418.1:c.86G>T, NM_001350414.2:c.86G>A, NM_001350414.2:c.86G>T, NM_001350414.1:c.86G>A, NM_001350414.1:c.86G>T, NM_001350425.2:c.86G>A, NM_001350425.2:c.86G>T, NM_001350425.1:c.86G>A, NM_001350425.1:c.86G>T, NM_001350435.2:c.86G>A, NM_001350435.2:c.86G>T, NM_001350435.1:c.86G>A, NM_001350435.1:c.86G>T, NM_001350457.2:c.86G>A, NM_001350457.2:c.86G>T, NM_001350457.1:c.86G>A, NM_001350457.1:c.86G>T, NM_001350439.2:c.86G>A, NM_001350439.2:c.86G>T, NM_001350439.1:c.86G>A, NM_001350439.1:c.86G>T, NM_001350441.2:c.86G>A, NM_001350441.2:c.86G>T, NM_001350441.1:c.86G>A, NM_001350441.1:c.86G>T, NM_001350454.2:c.86G>A, NM_001350454.2:c.86G>T, NM_001350454.1:c.86G>A, NM_001350454.1:c.86G>T, NM_001350443.2:c.86G>A, NM_001350443.2:c.86G>T, NM_001350443.1:c.86G>A, NM_001350443.1:c.86G>T, NM_001350460.2:c.86G>A, NM_001350460.2:c.86G>T, NM_001350460.1:c.86G>A, NM_001350460.1:c.86G>T, NM_001350447.2:c.86G>A, NM_001350447.2:c.86G>T, NM_001350447.1:c.86G>A, NM_001350447.1:c.86G>T, NM_001350429.2:c.86G>A, NM_001350429.2:c.86G>T, NM_001350429.1:c.86G>A, NM_001350429.1:c.86G>T, NM_001350444.2:c.86G>A, NM_001350444.2:c.86G>T, NM_001350444.1:c.86G>A, NM_001350444.1:c.86G>T, NM_001350423.2:c.86G>A, NM_001350423.2:c.86G>T, NM_001350423.1:c.86G>A, NM_001350423.1:c.86G>T, NM_001350442.2:c.86G>A, NM_001350442.2:c.86G>T, NM_001350442.1:c.86G>A, NM_001350442.1:c.86G>T, NM_001350438.2:c.86G>A, NM_001350438.2:c.86G>T, NM_001350438.1:c.86G>A, NM_001350438.1:c.86G>T, NM_001350428.2:c.-72G>A, NM_001350428.2:c.-72G>T, NM_001350428.1:c.-72G>A, NM_001350428.1:c.-72G>T, NM_001350430.2:c.-72G>A, NM_001350430.2:c.-72G>T, NM_001350430.1:c.-72G>A, NM_001350430.1:c.-72G>T, NM_001350445.2:c.86G>A, NM_001350445.2:c.86G>T, NM_001350445.1:c.86G>A, NM_001350445.1:c.86G>T, NM_001350434.2:c.86G>A, NM_001350434.2:c.86G>T, NM_001350434.1:c.86G>A, NM_001350434.1:c.86G>T, NM_001350424.2:c.-72G>A, NM_001350424.2:c.-72G>T, NM_001350424.1:c.-72G>A, NM_001350424.1:c.-72G>T, NM_001350450.2:c.-72G>A, NM_001350450.2:c.-72G>T, NM_001350450.1:c.-72G>A, NM_001350450.1:c.-72G>T, NM_001350417.2:c.86G>A, NM_001350417.2:c.86G>T, NM_001350417.1:c.86G>A, NM_001350417.1:c.86G>T, NM_001350422.2:c.86G>A, NM_001350422.2:c.86G>T, NM_001350422.1:c.86G>A, NM_001350422.1:c.86G>T, NM_001168408.2:c.86G>A, NM_001168408.2:c.86G>T, NM_001168408.1:c.86G>A, NM_001168408.1:c.86G>T, NM_001350427.2:c.86G>A, NM_001350427.2:c.86G>T, NM_001350427.1:c.86G>A, NM_001350427.1:c.86G>T, NM_001350449.2:c.86G>A, NM_001350449.2:c.86G>T, NM_001350449.1:c.86G>A, NM_001350449.1:c.86G>T, NM_001350426.2:c.86G>A, NM_001350426.2:c.86G>T, NM_001350426.1:c.86G>A, NM_001350426.1:c.86G>T, NM_001350440.2:c.86G>A, NM_001350440.2:c.86G>T, NM_001350440.1:c.86G>A, NM_001350440.1:c.86G>T, NM_001350432.2:c.86G>A, NM_001350432.2:c.86G>T, NM_001350432.1:c.86G>A, NM_001350432.1:c.86G>T, NM_001350455.2:c.86G>A, NM_001350455.2:c.86G>T, NM_001350455.1:c.86G>A, NM_001350455.1:c.86G>T, NM_001350419.2:c.86G>A, NM_001350419.2:c.86G>T, NM_001350419.1:c.86G>A, NM_001350419.1:c.86G>T, NM_001350452.2:c.86G>A, NM_001350452.2:c.86G>T, NM_001350452.1:c.86G>A, NM_001350452.1:c.86G>T, XM_017010537.3:c.86G>A, XM_017010537.3:c.86G>T, XM_017010537.2:c.86G>A, XM_017010537.2:c.86G>T, XM_017010537.1:c.86G>A, XM_017010537.1:c.86G>T, XM_017010544.3:c.86G>A, XM_017010544.3:c.86G>T, XM_017010544.2:c.86G>A, XM_017010544.2:c.86G>T, XM_017010544.1:c.86G>A, XM_017010544.1:c.86G>T, XM_017010546.3:c.86G>A, XM_017010546.3:c.86G>T, XM_017010546.2:c.86G>A, XM_017010546.2:c.86G>T, XM_017010546.1:c.86G>A, XM_017010546.1:c.86G>T, XM_024446372.2:c.86G>A, XM_024446372.2:c.86G>T, XM_024446372.1:c.86G>A, XM_024446372.1:c.86G>T, NP_001337365.1:p.Arg29Gln, NP_001337365.1:p.Arg29Leu, NP_001337375.1:p.Arg29Gln, NP_001337375.1:p.Arg29Leu, NP_001337385.1:p.Arg29Gln, NP_001337385.1:p.Arg29Leu, NP_001337349.1:p.Arg29Gln, NP_001337349.1:p.Arg29Leu, NP_001337360.1:p.Arg29Gln, NP_001337360.1:p.Arg29Leu, NP_001337362.1:p.Arg29Gln, NP_001337362.1:p.Arg29Leu, NP_001337344.1:p.Arg29Gln, NP_001337344.1:p.Arg29Leu, NP_001337387.1:p.Arg29Gln, NP_001337387.1:p.Arg29Leu, NP_001337345.1:p.Arg29Gln, NP_001337345.1:p.Arg29Leu, NP_001337377.1:p.Arg29Gln, NP_001337377.1:p.Arg29Leu, NP_001161879.1:p.Arg29Gln, NP_001161879.1:p.Arg29Leu, NP_001337347.1:p.Arg29Gln, NP_001337347.1:p.Arg29Leu, NP_001337343.1:p.Arg29Gln, NP_001337343.1:p.Arg29Leu, NP_001337354.1:p.Arg29Gln, NP_001337354.1:p.Arg29Leu, NP_001337364.1:p.Arg29Gln, NP_001337364.1:p.Arg29Leu, NP_001337386.1:p.Arg29Gln, NP_001337386.1:p.Arg29Leu, NP_001337368.1:p.Arg29Gln, NP_001337368.1:p.Arg29Leu, NP_001337370.1:p.Arg29Gln, NP_001337370.1:p.Arg29Leu, NP_001337383.1:p.Arg29Gln, NP_001337383.1:p.Arg29Leu, NP_001337372.1:p.Arg29Gln, NP_001337372.1:p.Arg29Leu, NP_001337389.1:p.Arg29Gln, NP_001337389.1:p.Arg29Leu, NP_001337376.1:p.Arg29Gln, NP_001337376.1:p.Arg29Leu, NP_001337358.1:p.Arg29Gln, NP_001337358.1:p.Arg29Leu, NP_001337373.1:p.Arg29Gln, NP_001337373.1:p.Arg29Leu, NP_001337352.1:p.Arg29Gln, NP_001337352.1:p.Arg29Leu, NP_001337371.1:p.Arg29Gln, NP_001337371.1:p.Arg29Leu, NP_001337367.1:p.Arg29Gln, NP_001337367.1:p.Arg29Leu, NP_001337374.1:p.Arg29Gln, NP_001337374.1:p.Arg29Leu, NP_001337363.1:p.Arg29Gln, NP_001337363.1:p.Arg29Leu, NP_001337346.1:p.Arg29Gln, NP_001337346.1:p.Arg29Leu, NP_001337351.1:p.Arg29Gln, NP_001337351.1:p.Arg29Leu, NP_001161880.1:p.Arg29Gln, NP_001161880.1:p.Arg29Leu, NP_001337356.1:p.Arg29Gln, NP_001337356.1:p.Arg29Leu, NP_001337378.1:p.Arg29Gln, NP_001337378.1:p.Arg29Leu, NP_001337355.1:p.Arg29Gln, NP_001337355.1:p.Arg29Leu, NP_001337369.1:p.Arg29Gln, NP_001337369.1:p.Arg29Leu, NP_001337361.1:p.Arg29Gln, NP_001337361.1:p.Arg29Leu, NP_001337384.1:p.Arg29Gln, NP_001337384.1:p.Arg29Leu, NP_001337348.1:p.Arg29Gln, NP_001337348.1:p.Arg29Leu, NP_001337381.1:p.Arg29Gln, NP_001337381.1:p.Arg29Leu, XP_016866026.1:p.Arg29Gln, XP_016866026.1:p.Arg29Leu, XP_016866033.1:p.Arg29Gln, XP_016866033.1:p.Arg29Leu, XP_016866035.1:p.Arg29Gln, XP_016866035.1:p.Arg29Leu, XP_024302140.1:p.Arg29Gln, XP_024302140.1:p.Arg29Leu

Select item 944663711.

rs9446637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:72400994 (GRCh38)
6:73110696 (GRCh37)
Canonical SPDI:: NC_000006.12:72400993:C:T
Gene:: RIMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.006165/275 (ALFA)
T=0./0 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.001873/1 (MGP)
T=0.013889/3 (Qatari)
T=0.014366/72 (1000Genomes)
T=0.015049/2109 (GnomAD)
T=0.015354/4064 (TOPMED)
T=0.02439/8 (HapMap)
C=0.5/6 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72400994C>T, NC_000006.11:g.73110696C>T, NG_016209.1:g.519047C>T, NM_014989.7:c.*280C>T, NM_014989.6:c.*280C>T, NM_014989.5:c.*280C>T, NM_001350436.2:c.*280C>T, NM_001350436.1:c.*280C>T, NM_001350446.2:c.*280C>T, NM_001350446.1:c.*280C>T, NM_001350456.2:c.*280C>T, NM_001350456.1:c.*280C>T, NM_001350420.2:c.*280C>T, NM_001350420.1:c.*280C>T, NM_001350437.2:c.*280C>T, NM_001350437.1:c.*280C>T, NM_001350431.2:c.*280C>T, NM_001350431.1:c.*280C>T, NM_001350433.2:c.*280C>T, NM_001350433.1:c.*280C>T, NM_001350415.2:c.*280C>T, NM_001350415.1:c.*280C>T, NM_001350459.2:c.*280C>T, NM_001350459.1:c.*280C>T, NM_001350421.2:c.*280C>T, NM_001350421.1:c.*280C>T, NM_001350458.2:c.*280C>T, NM_001350458.1:c.*280C>T, NM_001350416.2:c.*280C>T, NM_001350416.1:c.*280C>T, NM_001350448.2:c.*280C>T, NM_001350448.1:c.*280C>T, NM_001168407.2:c.*280C>T, NM_001168407.1:c.*280C>T, NM_001350462.2:c.*280C>T, NM_001350462.1:c.*280C>T, NM_001350418.2:c.*280C>T, NM_001350418.1:c.*280C>T, NM_001350471.2:c.*280C>T, NM_001350471.1:c.*280C>T, NM_001350414.2:c.*280C>T, NM_001350414.1:c.*280C>T, NM_001350425.2:c.*280C>T, NM_001350425.1:c.*280C>T, NM_001350435.2:c.*280C>T, NM_001350435.1:c.*280C>T, NM_001350457.2:c.*280C>T, NM_001350457.1:c.*280C>T, NM_001350439.2:c.*280C>T, NM_001350439.1:c.*280C>T, NM_001350441.2:c.*280C>T, NM_001350441.1:c.*280C>T, NM_001350454.2:c.*280C>T, NM_001350454.1:c.*280C>T, NM_001350443.2:c.*280C>T, NM_001350443.1:c.*280C>T, NM_001350460.2:c.*280C>T, NM_001350460.1:c.*280C>T, NM_001350447.2:c.*280C>T, NM_001350447.1:c.*280C>T, NM_001350469.2:c.*280C>T, NM_001350469.1:c.*280C>T, NM_001350429.2:c.*280C>T, NM_001350429.1:c.*280C>T, NM_001350444.2:c.*280C>T, NM_001350444.1:c.*280C>T, NM_001350461.2:c.*280C>T, NM_001350461.1:c.*280C>T, NM_001350474.2:c.*280C>T, NM_001350474.1:c.*280C>T, NM_001350423.2:c.*280C>T, NM_001350423.1:c.*280C>T, NM_001350466.2:c.*280C>T, NM_001350466.1:c.*280C>T, NM_001350464.2:c.*280C>T, NM_001350464.1:c.*280C>T, NM_001350463.2:c.*280C>T, NM_001350463.1:c.*280C>T, NM_001350442.2:c.*280C>T, NM_001350442.1:c.*280C>T, NM_001350438.2:c.*280C>T, NM_001350438.1:c.*280C>T, NM_001350467.2:c.*280C>T, NM_001350467.1:c.*280C>T, NM_001350428.2:c.*280C>T, NM_001350428.1:c.*280C>T, NM_001350430.2:c.*280C>T, NM_001350430.1:c.*280C>T, NM_001350445.2:c.*280C>T, NM_001350445.1:c.*280C>T, NM_001350468.2:c.*280C>T, NM_001350468.1:c.*280C>T, NM_001350434.2:c.*280C>T, NM_001350434.1:c.*280C>T, NM_001350424.2:c.*280C>T, NM_001350424.1:c.*280C>T, NM_001350450.2:c.*280C>T, NM_001350450.1:c.*280C>T, NM_001350417.2:c.*280C>T, NM_001350417.1:c.*280C>T, NM_001350422.2:c.*280C>T, NM_001350422.1:c.*280C>T, NM_001350470.2:c.*280C>T, NM_001350470.1:c.*280C>T, NM_001168410.2:c.*280C>T, NM_001168410.1:c.*280C>T, NM_001168408.2:c.*280C>T, NM_001168408.1:c.*280C>T, NM_001350427.2:c.*280C>T, NM_001350427.1:c.*280C>T, NM_001350449.2:c.*280C>T, NM_001350449.1:c.*280C>T, NM_001350473.2:c.*280C>T, NM_001350473.1:c.*280C>T, NM_001350472.2:c.*280C>T, NM_001350472.1:c.*280C>T, NM_001350426.2:c.*280C>T, NM_001350426.1:c.*280C>T, NM_001350440.2:c.*280C>T, NM_001350440.1:c.*280C>T, NM_001350432.2:c.*280C>T, NM_001350432.1:c.*280C>T, NM_001168409.2:c.*280C>T, NM_001168409.1:c.*280C>T, NM_001350455.2:c.*280C>T, NM_001350455.1:c.*280C>T, NM_001350419.2:c.*280C>T, NM_001350419.1:c.*280C>T, NM_001350465.2:c.*280C>T, NM_001350465.1:c.*280C>T, NM_001168411.2:c.*280C>T, NM_001168411.1:c.*280C>T, XM_011535604.4:c.*280C>T, XM_011535604.3:c.*280C>T, XM_011535604.2:c.*280C>T, XM_011535604.1:c.*280C>T, XM_017010516.3:c.*280C>T, XM_017010516.2:c.*280C>T, XM_017010516.1:c.*280C>T, XM_017010517.3:c.*280C>T, XM_017010517.2:c.*280C>T, XM_017010517.1:c.*280C>T, XM_017010518.3:c.*280C>T, XM_017010518.2:c.*280C>T, XM_017010518.1:c.*280C>T, XM_017010519.3:c.*280C>T, XM_017010519.2:c.*280C>T, XM_017010519.1:c.*280C>T, XM_017010520.3:c.*280C>T, XM_017010520.2:c.*280C>T, XM_017010520.1:c.*280C>T, XM_017010521.3:c.*280C>T, XM_017010521.2:c.*280C>T, XM_017010521.1:c.*280C>T, XM_017010522.3:c.*280C>T, XM_017010522.2:c.*280C>T, XM_017010522.1:c.*280C>T, XM_017010525.3:c.*280C>T, XM_017010525.2:c.*280C>T, XM_017010525.1:c.*280C>T, XM_017010537.3:c.*280C>T, XM_017010537.2:c.*280C>T, XM_017010537.1:c.*280C>T, XM_017010544.3:c.*280C>T, XM_017010544.2:c.*280C>T, XM_017010544.1:c.*280C>T, XM_017010546.3:c.*280C>T, XM_017010546.2:c.*280C>T, XM_017010546.1:c.*280C>T, XM_024446369.2:c.*280C>T, XM_024446369.1:c.*280C>T, XM_024446372.2:c.*280C>T, XM_024446372.1:c.*280C>T, XM_047418416.1:c.*280C>T, XM_047418417.1:c.*280C>T, XM_047418418.1:c.*280C>T, XM_047418419.1:c.*280C>T, XM_047418420.1:c.*280C>T, XM_047418421.1:c.*280C>T, XM_047418422.1:c.*280C>T, XM_047418423.1:c.*280C>T, XM_047418424.1:c.*280C>T, XM_047418425.1:c.*280C>T, XM_047418426.1:c.*280C>T

Select item 944663812.

rs9446638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:72401790 (GRCh38)
6:73111492 (GRCh37)
Canonical SPDI:: NC_000006.12:72401789:A:G
Gene:: RIMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.11919/24472 (ALFA)
G=0.046512/4 (PRJEB36033)
G=0.065495/41 (Chileans)
G=0.086243/163 (HapMap)
G=0.087963/19 (Qatari)
G=0.102996/55 (MGP)
G=0.106212/106 (GoNL)
G=0.1064/28163 (TOPMED)
G=0.107589/539 (1000Genomes)
G=0.114174/16010 (GnomAD)
G=0.115175/211 (Korea1K)
G=0.126362/487 (ALSPAC)
G=0.127641/145 (Daghestan)
G=0.12945/480 (TWINSUK)
G=0.134745/280 (HGDP_Stanford)
G=0.135183/2266 (TOMMO)
G=0.143737/420 (KOREAN)
G=0.148214/664 (Estonian)
G=0.15/6 (GENOME_DK)
G=0.171296/37 (Vietnamese)
G=0.175/105 (NorthernSweden)
A=0.423077/11 (Siberian)
A=0.441667/53 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72401790A>G, NC_000006.11:g.73111492A>G, NG_016209.1:g.519843A>G, NM_014989.7:c.*1076A>G, NM_014989.6:c.*1076A>G, NM_014989.5:c.*1076A>G, NM_001350436.2:c.*1076A>G, NM_001350436.1:c.*1076A>G, NM_001350446.2:c.*1076A>G, NM_001350446.1:c.*1076A>G, NM_001350456.2:c.*1076A>G, NM_001350456.1:c.*1076A>G, NM_001350420.2:c.*1076A>G, NM_001350420.1:c.*1076A>G, NM_001350437.2:c.*1076A>G, NM_001350437.1:c.*1076A>G, NM_001350431.2:c.*1076A>G, NM_001350431.1:c.*1076A>G, NM_001350433.2:c.*1076A>G, NM_001350433.1:c.*1076A>G, NM_001350415.2:c.*1076A>G, NM_001350415.1:c.*1076A>G, NM_001350459.2:c.*1076A>G, NM_001350459.1:c.*1076A>G, NM_001350421.2:c.*1076A>G, NM_001350421.1:c.*1076A>G, NM_001350458.2:c.*1076A>G, NM_001350458.1:c.*1076A>G, NM_001350416.2:c.*1076A>G, NM_001350416.1:c.*1076A>G, NM_001350448.2:c.*1076A>G, NM_001350448.1:c.*1076A>G, NM_001168407.2:c.*1076A>G, NM_001168407.1:c.*1076A>G, NM_001350462.2:c.*1076A>G, NM_001350462.1:c.*1076A>G, NM_001350418.2:c.*1076A>G, NM_001350418.1:c.*1076A>G, NM_001350471.2:c.*1076A>G, NM_001350471.1:c.*1076A>G, NM_001350414.2:c.*1076A>G, NM_001350414.1:c.*1076A>G, NM_001350425.2:c.*1076A>G, NM_001350425.1:c.*1076A>G, NM_001350435.2:c.*1076A>G, NM_001350435.1:c.*1076A>G, NM_001350457.2:c.*1076A>G, NM_001350457.1:c.*1076A>G, NM_001350439.2:c.*1076A>G, NM_001350439.1:c.*1076A>G, NM_001350441.2:c.*1076A>G, NM_001350441.1:c.*1076A>G, NM_001350454.2:c.*1076A>G, NM_001350454.1:c.*1076A>G, NM_001350443.2:c.*1076A>G, NM_001350443.1:c.*1076A>G, NM_001350460.2:c.*1076A>G, NM_001350460.1:c.*1076A>G, NM_001350447.2:c.*1076A>G, NM_001350447.1:c.*1076A>G, NM_001350469.2:c.*1076A>G, NM_001350469.1:c.*1076A>G, NM_001350429.2:c.*1076A>G, NM_001350429.1:c.*1076A>G, NM_001350444.2:c.*1076A>G, NM_001350444.1:c.*1076A>G, NM_001350461.2:c.*1076A>G, NM_001350461.1:c.*1076A>G, NM_001350474.2:c.*1076A>G, NM_001350474.1:c.*1076A>G, NM_001350423.2:c.*1076A>G, NM_001350423.1:c.*1076A>G, NM_001350466.2:c.*1076A>G, NM_001350466.1:c.*1076A>G, NM_001350464.2:c.*1076A>G, NM_001350464.1:c.*1076A>G, NM_001350463.2:c.*1076A>G, NM_001350463.1:c.*1076A>G, NM_001350442.2:c.*1076A>G, NM_001350442.1:c.*1076A>G, NM_001350438.2:c.*1076A>G, NM_001350438.1:c.*1076A>G, NM_001350467.2:c.*1076A>G, NM_001350467.1:c.*1076A>G, NM_001350428.2:c.*1076A>G, NM_001350428.1:c.*1076A>G, NM_001350430.2:c.*1076A>G, NM_001350430.1:c.*1076A>G, NM_001350445.2:c.*1076A>G, NM_001350445.1:c.*1076A>G, NM_001350468.2:c.*1076A>G, NM_001350468.1:c.*1076A>G, NM_001350434.2:c.*1076A>G, NM_001350434.1:c.*1076A>G, NM_001350424.2:c.*1076A>G, NM_001350424.1:c.*1076A>G, NM_001350450.2:c.*1076A>G, NM_001350450.1:c.*1076A>G, NM_001350417.2:c.*1076A>G, NM_001350417.1:c.*1076A>G, NM_001350422.2:c.*1076A>G, NM_001350422.1:c.*1076A>G, NM_001350470.2:c.*1076A>G, NM_001350470.1:c.*1076A>G, NM_001168410.2:c.*1076A>G, NM_001168410.1:c.*1076A>G, NM_001168408.2:c.*1076A>G, NM_001168408.1:c.*1076A>G, NM_001350427.2:c.*1076A>G, NM_001350427.1:c.*1076A>G, NM_001350449.2:c.*1076A>G, NM_001350449.1:c.*1076A>G, NM_001350473.2:c.*1076A>G, NM_001350473.1:c.*1076A>G, NM_001350472.2:c.*1076A>G, NM_001350472.1:c.*1076A>G, NM_001350426.2:c.*1076A>G, NM_001350426.1:c.*1076A>G, NM_001350440.2:c.*1076A>G, NM_001350440.1:c.*1076A>G, NM_001350432.2:c.*1076A>G, NM_001350432.1:c.*1076A>G, NM_001168409.2:c.*1076A>G, NM_001168409.1:c.*1076A>G, NM_001350455.2:c.*1076A>G, NM_001350455.1:c.*1076A>G, NM_001350419.2:c.*1076A>G, NM_001350419.1:c.*1076A>G, NM_001350465.2:c.*1076A>G, NM_001350465.1:c.*1076A>G, NM_001168411.2:c.*1076A>G, NM_001168411.1:c.*1076A>G, XM_011535604.4:c.*1076A>G, XM_011535604.3:c.*1076A>G, XM_011535604.2:c.*1076A>G, XM_011535604.1:c.*1076A>G, XM_017010516.3:c.*1076A>G, XM_017010516.2:c.*1076A>G, XM_017010516.1:c.*1076A>G, XM_017010517.3:c.*1076A>G, XM_017010517.2:c.*1076A>G, XM_017010517.1:c.*1076A>G, XM_017010518.3:c.*1076A>G, XM_017010518.2:c.*1076A>G, XM_017010518.1:c.*1076A>G, XM_017010519.3:c.*1076A>G, XM_017010519.2:c.*1076A>G, XM_017010519.1:c.*1076A>G, XM_017010520.3:c.*1076A>G, XM_017010520.2:c.*1076A>G, XM_017010520.1:c.*1076A>G, XM_017010521.3:c.*1076A>G, XM_017010521.2:c.*1076A>G, XM_017010521.1:c.*1076A>G, XM_017010522.3:c.*1076A>G, XM_017010522.2:c.*1076A>G, XM_017010522.1:c.*1076A>G, XM_017010525.3:c.*1076A>G, XM_017010525.2:c.*1076A>G, XM_017010525.1:c.*1076A>G, XM_017010537.3:c.*1076A>G, XM_017010537.2:c.*1076A>G, XM_017010537.1:c.*1076A>G, XM_017010544.3:c.*1076A>G, XM_017010544.2:c.*1076A>G, XM_017010544.1:c.*1076A>G, XM_017010546.3:c.*1076A>G, XM_017010546.2:c.*1076A>G, XM_017010546.1:c.*1076A>G, XM_024446369.2:c.*1076A>G, XM_024446369.1:c.*1076A>G, XM_024446372.2:c.*1076A>G, XM_024446372.1:c.*1076A>G, XM_047418416.1:c.*1076A>G, XM_047418417.1:c.*1076A>G, XM_047418418.1:c.*1076A>G, XM_047418419.1:c.*1076A>G, XM_047418420.1:c.*1076A>G, XM_047418421.1:c.*1076A>G, XM_047418422.1:c.*1076A>G, XM_047418423.1:c.*1076A>G, XM_047418424.1:c.*1076A>G, XM_047418425.1:c.*1076A>G, XM_047418426.1:c.*1076A>G

Select item 1175110113.

rs11751101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:72400789 (GRCh38)
6:73110491 (GRCh37)
Canonical SPDI:: NC_000006.12:72400788:G:A
Gene:: RIMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.020574/397 (ALFA)
A=0.000546/1 (Korea1K)
A=0.011243/56 (1000Genomes)
A=0.012121/4 (HapMap)
A=0.013889/3 (Qatari)
A=0.016563/4384 (TOPMED)
A=0.017314/2427 (GnomAD)
A=0.017634/79 (Estonian)
A=0.020599/11 (MGP)
A=0.021667/13 (NorthernSweden)
A=0.026052/26 (GoNL)
A=0.027244/105 (ALSPAC)
A=0.030205/112 (TWINSUK)
A=0.035211/40 (Daghestan)
G=0.5/1 (Siberian)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72400789G>A, NC_000006.11:g.73110491G>A, NG_016209.1:g.518842G>A, NM_014989.7:c.*75G>A, NM_014989.6:c.*75G>A, NM_014989.5:c.*75G>A, NM_001350436.2:c.*75G>A, NM_001350436.1:c.*75G>A, NM_001350446.2:c.*75G>A, NM_001350446.1:c.*75G>A, NM_001350456.2:c.*75G>A, NM_001350456.1:c.*75G>A, NM_001350420.2:c.*75G>A, NM_001350420.1:c.*75G>A, NM_001350437.2:c.*75G>A, NM_001350437.1:c.*75G>A, NM_001350431.2:c.*75G>A, NM_001350431.1:c.*75G>A, NM_001350433.2:c.*75G>A, NM_001350433.1:c.*75G>A, NM_001350415.2:c.*75G>A, NM_001350415.1:c.*75G>A, NM_001350459.2:c.*75G>A, NM_001350459.1:c.*75G>A, NM_001350421.2:c.*75G>A, NM_001350421.1:c.*75G>A, NM_001350458.2:c.*75G>A, NM_001350458.1:c.*75G>A, NM_001350416.2:c.*75G>A, NM_001350416.1:c.*75G>A, NM_001350448.2:c.*75G>A, NM_001350448.1:c.*75G>A, NM_001168407.2:c.*75G>A, NM_001168407.1:c.*75G>A, NM_001350462.2:c.*75G>A, NM_001350462.1:c.*75G>A, NM_001350418.2:c.*75G>A, NM_001350418.1:c.*75G>A, NM_001350471.2:c.*75G>A, NM_001350471.1:c.*75G>A, NM_001350414.2:c.*75G>A, NM_001350414.1:c.*75G>A, NM_001350425.2:c.*75G>A, NM_001350425.1:c.*75G>A, NM_001350435.2:c.*75G>A, NM_001350435.1:c.*75G>A, NM_001350457.2:c.*75G>A, NM_001350457.1:c.*75G>A, NM_001350439.2:c.*75G>A, NM_001350439.1:c.*75G>A, NM_001350441.2:c.*75G>A, NM_001350441.1:c.*75G>A, NM_001350454.2:c.*75G>A, NM_001350454.1:c.*75G>A, NM_001350443.2:c.*75G>A, NM_001350443.1:c.*75G>A, NM_001350460.2:c.*75G>A, NM_001350460.1:c.*75G>A, NM_001350447.2:c.*75G>A, NM_001350447.1:c.*75G>A, NM_001350469.2:c.*75G>A, NM_001350469.1:c.*75G>A, NM_001350429.2:c.*75G>A, NM_001350429.1:c.*75G>A, NM_001350444.2:c.*75G>A, NM_001350444.1:c.*75G>A, NM_001350461.2:c.*75G>A, NM_001350461.1:c.*75G>A, NM_001350474.2:c.*75G>A, NM_001350474.1:c.*75G>A, NM_001350423.2:c.*75G>A, NM_001350423.1:c.*75G>A, NM_001350466.2:c.*75G>A, NM_001350466.1:c.*75G>A, NM_001350464.2:c.*75G>A, NM_001350464.1:c.*75G>A, NM_001350463.2:c.*75G>A, NM_001350463.1:c.*75G>A, NM_001350442.2:c.*75G>A, NM_001350442.1:c.*75G>A, NM_001350438.2:c.*75G>A, NM_001350438.1:c.*75G>A, NM_001350467.2:c.*75G>A, NM_001350467.1:c.*75G>A, NM_001350428.2:c.*75G>A, NM_001350428.1:c.*75G>A, NM_001350430.2:c.*75G>A, NM_001350430.1:c.*75G>A, NM_001350445.2:c.*75G>A, NM_001350445.1:c.*75G>A, NM_001350468.2:c.*75G>A, NM_001350468.1:c.*75G>A, NM_001350434.2:c.*75G>A, NM_001350434.1:c.*75G>A, NM_001350424.2:c.*75G>A, NM_001350424.1:c.*75G>A, NM_001350450.2:c.*75G>A, NM_001350450.1:c.*75G>A, NM_001350417.2:c.*75G>A, NM_001350417.1:c.*75G>A, NM_001350422.2:c.*75G>A, NM_001350422.1:c.*75G>A, NM_001350470.2:c.*75G>A, NM_001350470.1:c.*75G>A, NM_001168410.2:c.*75G>A, NM_001168410.1:c.*75G>A, NM_001168408.2:c.*75G>A, NM_001168408.1:c.*75G>A, NM_001350427.2:c.*75G>A, NM_001350427.1:c.*75G>A, NM_001350449.2:c.*75G>A, NM_001350449.1:c.*75G>A, NM_001350473.2:c.*75G>A, NM_001350473.1:c.*75G>A, NM_001350472.2:c.*75G>A, NM_001350472.1:c.*75G>A, NM_001350426.2:c.*75G>A, NM_001350426.1:c.*75G>A, NM_001350440.2:c.*75G>A, NM_001350440.1:c.*75G>A, NM_001350432.2:c.*75G>A, NM_001350432.1:c.*75G>A, NM_001168409.2:c.*75G>A, NM_001168409.1:c.*75G>A, NM_001350455.2:c.*75G>A, NM_001350455.1:c.*75G>A, NM_001350419.2:c.*75G>A, NM_001350419.1:c.*75G>A, NM_001350465.2:c.*75G>A, NM_001350465.1:c.*75G>A, NM_001168411.2:c.*75G>A, NM_001168411.1:c.*75G>A, XM_011535604.4:c.*75G>A, XM_011535604.3:c.*75G>A, XM_011535604.2:c.*75G>A, XM_011535604.1:c.*75G>A, XM_017010516.3:c.*75G>A, XM_017010516.2:c.*75G>A, XM_017010516.1:c.*75G>A, XM_017010517.3:c.*75G>A, XM_017010517.2:c.*75G>A, XM_017010517.1:c.*75G>A, XM_017010518.3:c.*75G>A, XM_017010518.2:c.*75G>A, XM_017010518.1:c.*75G>A, XM_017010519.3:c.*75G>A, XM_017010519.2:c.*75G>A, XM_017010519.1:c.*75G>A, XM_017010520.3:c.*75G>A, XM_017010520.2:c.*75G>A, XM_017010520.1:c.*75G>A, XM_017010521.3:c.*75G>A, XM_017010521.2:c.*75G>A, XM_017010521.1:c.*75G>A, XM_017010522.3:c.*75G>A, XM_017010522.2:c.*75G>A, XM_017010522.1:c.*75G>A, XM_017010525.3:c.*75G>A, XM_017010525.2:c.*75G>A, XM_017010525.1:c.*75G>A, XM_017010537.3:c.*75G>A, XM_017010537.2:c.*75G>A, XM_017010537.1:c.*75G>A, XM_017010544.3:c.*75G>A, XM_017010544.2:c.*75G>A, XM_017010544.1:c.*75G>A, XM_017010546.3:c.*75G>A, XM_017010546.2:c.*75G>A, XM_017010546.1:c.*75G>A, XM_024446369.2:c.*75G>A, XM_024446369.1:c.*75G>A, XM_024446372.2:c.*75G>A, XM_024446372.1:c.*75G>A, XM_047418416.1:c.*75G>A, XM_047418417.1:c.*75G>A, XM_047418418.1:c.*75G>A, XM_047418419.1:c.*75G>A, XM_047418420.1:c.*75G>A, XM_047418421.1:c.*75G>A, XM_047418422.1:c.*75G>A, XM_047418423.1:c.*75G>A, XM_047418424.1:c.*75G>A, XM_047418425.1:c.*75G>A, XM_047418426.1:c.*75G>A

Select item 1772566614.

rs17725666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:72180008 (GRCh38)
6:72889711 (GRCh37)
Canonical SPDI:: NC_000006.12:72180007:G:A
Gene:: RIMS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.335627/6340 (ALFA)
A=0.003745/2 (MGP)
A=0.09569/1604 (TOMMO)
A=0.124232/364 (KOREAN)
A=0.127729/234 (Korea1K)
A=0.186916/40 (Vietnamese)
A=0.217208/1088 (1000Genomes)
A=0.269716/71391 (TOPMED)
A=0.283727/39762 (GnomAD)
A=0.291667/63 (Qatari)
A=0.351667/211 (NorthernSweden)
A=0.365426/1355 (TWINSUK)
A=0.370741/370 (GoNL)
A=0.375/15 (GENOME_DK)
A=0.37753/1455 (ALSPAC)
G=0.402062/78 (SGDP_PRJ)
A=0.402455/1803 (Estonian)
G=0.441176/15 (Siberian)
HGVS:: NC_000006.12:g.72180008G>A, NC_000006.11:g.72889711G>A, NG_016209.1:g.298062G>A

Select item 3482116015.

rs34821160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:72251340 (GRCh38)
6:72961043 (GRCh37)
Canonical SPDI:: NC_000006.12:72251339:T:C
Gene:: RIMS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001441/108 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.001283/287 (GnomAD_exomes)
C=0.002853/157 (ExAC)
C=0.005498/771 (GnomAD)
C=0.005713/70 (GoESP)
C=0.005833/1544 (TOPMED)
C=0.007027/35 (1000Genomes)
T=0.5/3 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72251340T>C, NC_000006.11:g.72961043T>C, NG_016209.1:g.369394T>C, NM_014989.7:c.2670T>C, NM_014989.6:c.2670T>C, NM_014989.5:c.2670T>C, NM_001350436.2:c.1092T>C, NM_001350436.1:c.1092T>C, NM_001350446.2:c.1092T>C, NM_001350446.1:c.1092T>C, NM_001350456.2:c.1092T>C, NM_001350456.1:c.1092T>C, NM_001350420.2:c.1092T>C, NM_001350420.1:c.1092T>C, NM_001350437.2:c.1023T>C, NM_001350437.1:c.1023T>C, NM_001350431.2:c.1092T>C, NM_001350431.1:c.1092T>C, NM_001350433.2:c.1092T>C, NM_001350433.1:c.1092T>C, NM_001350415.2:c.1092T>C, NM_001350415.1:c.1092T>C, NM_001350459.2:c.1023T>C, NM_001350459.1:c.1023T>C, NM_001350421.2:c.1023T>C, NM_001350421.1:c.1023T>C, NM_001350458.2:c.1092T>C, NM_001350458.1:c.1092T>C, NM_001350416.2:c.1092T>C, NM_001350416.1:c.1092T>C, NM_001350448.2:c.1092T>C, NM_001350448.1:c.1092T>C, NM_001168407.2:c.1092T>C, NM_001168407.1:c.1092T>C, NM_001350462.2:c.1023T>C, NM_001350462.1:c.1023T>C, NM_001350418.2:c.1092T>C, NM_001350418.1:c.1092T>C, NM_001350471.2:c.1023T>C, NM_001350471.1:c.1023T>C, NM_001350414.2:c.1092T>C, NM_001350414.1:c.1092T>C, NM_001350425.2:c.1092T>C, NM_001350425.1:c.1092T>C, NM_001350435.2:c.1092T>C, NM_001350435.1:c.1092T>C, NM_001350457.2:c.1092T>C, NM_001350457.1:c.1092T>C, NM_001350439.2:c.1092T>C, NM_001350439.1:c.1092T>C, NM_001350441.2:c.1092T>C, NM_001350441.1:c.1092T>C, NM_001350454.2:c.1092T>C, NM_001350454.1:c.1092T>C, NM_001350443.2:c.1092T>C, NM_001350443.1:c.1092T>C, NM_001350460.2:c.1092T>C, NM_001350460.1:c.1092T>C, NM_001350447.2:c.1092T>C, NM_001350447.1:c.1092T>C, NM_001350469.2:c.849T>C, NM_001350469.1:c.849T>C, NM_001350429.2:c.1092T>C, NM_001350429.1:c.1092T>C, NM_001350444.2:c.1092T>C, NM_001350444.1:c.1092T>C, NM_001350461.2:c.849T>C, NM_001350461.1:c.849T>C, NM_001350474.2:c.1047T>C, NM_001350474.1:c.1047T>C, NM_001350423.2:c.1092T>C, NM_001350423.1:c.1092T>C, NM_001350466.2:c.849T>C, NM_001350466.1:c.849T>C, NM_001350464.2:c.849T>C, NM_001350464.1:c.849T>C, NM_001350463.2:c.849T>C, NM_001350463.1:c.849T>C, NM_001350442.2:c.1092T>C, NM_001350442.1:c.1092T>C, NM_001350438.2:c.1092T>C, NM_001350438.1:c.1092T>C, NM_001350467.2:c.849T>C, NM_001350467.1:c.849T>C, NM_001350428.2:c.1023T>C, NM_001350428.1:c.1023T>C, NM_001350430.2:c.1023T>C, NM_001350430.1:c.1023T>C, NM_001350445.2:c.1092T>C, NM_001350445.1:c.1092T>C, NM_001350468.2:c.849T>C, NM_001350468.1:c.849T>C, NM_001350434.2:c.1092T>C, NM_001350434.1:c.1092T>C, NM_001350424.2:c.1023T>C, NM_001350424.1:c.1023T>C, NM_001350450.2:c.1023T>C, NM_001350450.1:c.1023T>C, NM_001350417.2:c.1092T>C, NM_001350417.1:c.1092T>C, NM_001350422.2:c.1092T>C, NM_001350422.1:c.1092T>C, NM_001350470.2:c.1047T>C, NM_001350470.1:c.1047T>C, NM_001168410.2:c.1047T>C, NM_001168410.1:c.1047T>C, NM_001168408.2:c.1092T>C, NM_001168408.1:c.1092T>C, NM_001350427.2:c.1092T>C, NM_001350427.1:c.1092T>C, NM_001350449.2:c.1092T>C, NM_001350449.1:c.1092T>C, NM_001350473.2:c.1047T>C, NM_001350473.1:c.1047T>C, NM_001350472.2:c.1047T>C, NM_001350472.1:c.1047T>C, NM_001350426.2:c.1092T>C, NM_001350426.1:c.1092T>C, NM_001350440.2:c.1092T>C, NM_001350440.1:c.1092T>C, NM_001350432.2:c.1092T>C, NM_001350432.1:c.1092T>C, NM_001168409.2:c.849T>C, NM_001168409.1:c.849T>C, NM_001350455.2:c.1092T>C, NM_001350455.1:c.1092T>C, NM_001350419.2:c.1092T>C, NM_001350419.1:c.1092T>C, NM_001350465.2:c.849T>C, NM_001350465.1:c.849T>C, NM_001350452.2:c.1092T>C, NM_001350452.1:c.1092T>C, XM_011535604.4:c.2670T>C, XM_011535604.3:c.2670T>C, XM_011535604.2:c.2670T>C, XM_011535604.1:c.1089T>C, XM_017010516.3:c.2670T>C, XM_017010516.2:c.2670T>C, XM_017010516.1:c.2670T>C, XM_017010517.3:c.2670T>C, XM_017010517.2:c.2670T>C, XM_017010517.1:c.2670T>C, XM_017010518.3:c.2670T>C, XM_017010518.2:c.2670T>C, XM_017010518.1:c.2670T>C, XM_017010519.3:c.2670T>C, XM_017010519.2:c.2670T>C, XM_017010519.1:c.2670T>C, XM_017010520.3:c.2670T>C, XM_017010520.2:c.2670T>C, XM_017010520.1:c.2670T>C, XM_017010521.3:c.2670T>C, XM_017010521.2:c.2670T>C, XM_017010521.1:c.2670T>C, XM_017010522.3:c.2670T>C, XM_017010522.2:c.2670T>C, XM_017010522.1:c.2670T>C, XM_017010525.3:c.2670T>C, XM_017010525.2:c.2670T>C, XM_017010525.1:c.2670T>C, XM_017010537.3:c.1092T>C, XM_017010537.2:c.1092T>C, XM_017010537.1:c.1092T>C, XM_017010544.3:c.1092T>C, XM_017010544.2:c.1092T>C, XM_017010544.1:c.1092T>C, XM_017010546.3:c.1092T>C, XM_017010546.2:c.1092T>C, XM_017010546.1:c.1092T>C, XM_024446369.2:c.2670T>C, XM_024446369.1:c.2670T>C, XM_024446372.2:c.1092T>C, XM_024446372.1:c.1092T>C, XM_047418416.1:c.2670T>C, XM_047418417.1:c.2658T>C, XM_047418418.1:c.2658T>C, XM_047418419.1:c.2670T>C, XM_047418420.1:c.2577T>C, XM_047418421.1:c.2670T>C, XM_047418422.1:c.2577T>C, XM_047418423.1:c.2658T>C, XM_047418424.1:c.2577T>C, XM_047418425.1:c.2577T>C, XM_047418426.1:c.2577T>C

Select item 4126548916.

rs41265489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:72099938 (GRCh38)
6:72809641 (GRCh37)
Canonical SPDI:: NC_000006.12:72099937:C:T
Gene:: RIMS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.080094/3198 (ALFA)
T=0.000106/2 (TOMMO)
T=0.041693/209 (1000Genomes)
T=0.055/33 (NorthernSweden)
T=0.061464/15052 (GnomAD_exomes)
T=0.0625/19 (FINRISK)
T=0.06317/7481 (ExAC)
T=0.066108/17498 (TOPMED)
T=0.068031/9524 (GnomAD)
T=0.069444/15 (Qatari)
T=0.075523/888 (GoESP)
T=0.078652/42 (MGP)
T=0.079657/307 (ALSPAC)
T=0.083873/311 (TWINSUK)
T=0.092184/92 (GoNL)
T=0.1/4 (GENOME_DK)
T=0.102902/461 (Estonian)
C=0.467742/29 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000006.12:g.72099938C>T, NC_000006.11:g.72809641C>T, NG_016209.1:g.217992C>T

Select item 4126549317.

rs41265493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:72258249 (GRCh38)
6:72967952 (GRCh37)
Canonical SPDI:: NC_000006.12:72258248:G:A
Gene:: RIMS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.011183/550 (ALFA)
A=0.000342/1 (KOREAN)
A=0.000425/7 (TOMMO)
A=0.001667/1 (NorthernSweden)
A=0.004997/25 (1000Genomes)
A=0.005804/26 (Estonian)
A=0.007464/91 (GoESP)
A=0.007514/1989 (TOPMED)
A=0.007948/945 (ExAC)
A=0.008195/1149 (GnomAD)
A=0.008758/2175 (GnomAD_exomes)
A=0.009868/3 (FINRISK)
A=0.010119/39 (ALSPAC)
A=0.011597/43 (TWINSUK)
A=0.013109/7 (MGP)
A=0.013889/3 (Qatari)
A=0.015929/18 (Daghestan)
A=0.016032/16 (GoNL)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72258249G>A, NC_000006.11:g.72967952G>A, NG_016209.1:g.376303G>A, NM_014989.7:c.2895G>A, NM_014989.6:c.2895G>A, NM_014989.5:c.2895G>A, NM_001350436.2:c.1314G>A, NM_001350436.1:c.1314G>A, NM_001350446.2:c.1317G>A, NM_001350446.1:c.1317G>A, NM_001350456.2:c.1314G>A, NM_001350456.1:c.1314G>A, NM_001350420.2:c.1317G>A, NM_001350420.1:c.1317G>A, NM_001350437.2:c.1245G>A, NM_001350437.1:c.1245G>A, NM_001350431.2:c.1317G>A, NM_001350431.1:c.1317G>A, NM_001350433.2:c.1317G>A, NM_001350433.1:c.1317G>A, NM_001350415.2:c.1314G>A, NM_001350415.1:c.1314G>A, NM_001350459.2:c.1248G>A, NM_001350459.1:c.1248G>A, NM_001350421.2:c.1245G>A, NM_001350421.1:c.1245G>A, NM_001350458.2:c.1317G>A, NM_001350458.1:c.1317G>A, NM_001350416.2:c.1317G>A, NM_001350416.1:c.1317G>A, NM_001350448.2:c.1317G>A, NM_001350448.1:c.1317G>A, NM_001168407.2:c.1314G>A, NM_001168407.1:c.1314G>A, NM_001350462.2:c.1248G>A, NM_001350462.1:c.1248G>A, NM_001350418.2:c.1314G>A, NM_001350418.1:c.1314G>A, NM_001350471.2:c.1245G>A, NM_001350471.1:c.1245G>A, NM_001350414.2:c.1317G>A, NM_001350414.1:c.1317G>A, NM_001350425.2:c.1314G>A, NM_001350425.1:c.1314G>A, NM_001350435.2:c.1314G>A, NM_001350435.1:c.1314G>A, NM_001350457.2:c.1317G>A, NM_001350457.1:c.1317G>A, NM_001350439.2:c.1317G>A, NM_001350439.1:c.1317G>A, NM_001350441.2:c.1314G>A, NM_001350441.1:c.1314G>A, NM_001350454.2:c.1314G>A, NM_001350454.1:c.1314G>A, NM_001350443.2:c.1314G>A, NM_001350443.1:c.1314G>A, NM_001350460.2:c.1317G>A, NM_001350460.1:c.1317G>A, NM_001350447.2:c.1314G>A, NM_001350447.1:c.1314G>A, NM_001350469.2:c.1074G>A, NM_001350469.1:c.1074G>A, NM_001350429.2:c.1317G>A, NM_001350429.1:c.1317G>A, NM_001350444.2:c.1314G>A, NM_001350444.1:c.1314G>A, NM_001350461.2:c.1071G>A, NM_001350461.1:c.1071G>A, NM_001350474.2:c.1272G>A, NM_001350474.1:c.1272G>A, NM_001350423.2:c.1314G>A, NM_001350423.1:c.1314G>A, NM_001350466.2:c.1074G>A, NM_001350466.1:c.1074G>A, NM_001350464.2:c.1074G>A, NM_001350464.1:c.1074G>A, NM_001350463.2:c.1071G>A, NM_001350463.1:c.1071G>A, NM_001350442.2:c.1317G>A, NM_001350442.1:c.1317G>A, NM_001350438.2:c.1314G>A, NM_001350438.1:c.1314G>A, NM_001350467.2:c.1074G>A, NM_001350467.1:c.1074G>A, NM_001350428.2:c.1248G>A, NM_001350428.1:c.1248G>A, NM_001350430.2:c.1245G>A, NM_001350430.1:c.1245G>A, NM_001350445.2:c.1314G>A, NM_001350445.1:c.1314G>A, NM_001350468.2:c.1071G>A, NM_001350468.1:c.1071G>A, NM_001350434.2:c.1314G>A, NM_001350434.1:c.1314G>A, NM_001350424.2:c.1248G>A, NM_001350424.1:c.1248G>A, NM_001350450.2:c.1245G>A, NM_001350450.1:c.1245G>A, NM_001350417.2:c.1317G>A, NM_001350417.1:c.1317G>A, NM_001350422.2:c.1314G>A, NM_001350422.1:c.1314G>A, NM_001350470.2:c.1272G>A, NM_001350470.1:c.1272G>A, NM_001168410.2:c.1272G>A, NM_001168410.1:c.1272G>A, NM_001168408.2:c.1317G>A, NM_001168408.1:c.1317G>A, NM_001350427.2:c.1314G>A, NM_001350427.1:c.1314G>A, NM_001350449.2:c.1314G>A, NM_001350449.1:c.1314G>A, NM_001350473.2:c.1272G>A, NM_001350473.1:c.1272G>A, NM_001350472.2:c.1269G>A, NM_001350472.1:c.1269G>A, NM_001350426.2:c.1317G>A, NM_001350426.1:c.1317G>A, NM_001350440.2:c.1314G>A, NM_001350440.1:c.1314G>A, NM_001350432.2:c.1314G>A, NM_001350432.1:c.1314G>A, NM_001168409.2:c.1074G>A, NM_001168409.1:c.1074G>A, NM_001350455.2:c.1317G>A, NM_001350455.1:c.1317G>A, NM_001350419.2:c.1314G>A, NM_001350419.1:c.1314G>A, NM_001350465.2:c.1074G>A, NM_001350465.1:c.1074G>A, NM_001350452.2:c.1317G>A, NM_001350452.1:c.1317G>A, XM_011535604.4:c.2892G>A, XM_011535604.3:c.2892G>A, XM_011535604.2:c.2892G>A, XM_011535604.1:c.1311G>A, XM_017010516.3:c.2895G>A, XM_017010516.2:c.2895G>A, XM_017010516.1:c.2895G>A, XM_017010517.3:c.2895G>A, XM_017010517.2:c.2895G>A, XM_017010517.1:c.2895G>A, XM_017010518.3:c.2892G>A, XM_017010518.2:c.2892G>A, XM_017010518.1:c.2892G>A, XM_017010519.3:c.2895G>A, XM_017010519.2:c.2895G>A, XM_017010519.1:c.2895G>A, XM_017010520.3:c.2895G>A, XM_017010520.2:c.2895G>A, XM_017010520.1:c.2895G>A, XM_017010521.3:c.2895G>A, XM_017010521.2:c.2895G>A, XM_017010521.1:c.2895G>A, XM_017010522.3:c.2895G>A, XM_017010522.2:c.2895G>A, XM_017010522.1:c.2895G>A, XM_017010525.3:c.2895G>A, XM_017010525.2:c.2895G>A, XM_017010525.1:c.2895G>A, XM_017010537.3:c.1317G>A, XM_017010537.2:c.1317G>A, XM_017010537.1:c.1317G>A, XM_017010544.3:c.1314G>A, XM_017010544.2:c.1314G>A, XM_017010544.1:c.1314G>A, XM_017010546.3:c.1317G>A, XM_017010546.2:c.1317G>A, XM_017010546.1:c.1317G>A, XM_024446369.2:c.2892G>A, XM_024446369.1:c.2892G>A, XM_024446372.2:c.1314G>A, XM_024446372.1:c.1314G>A, XM_047418416.1:c.2823G>A, XM_047418417.1:c.2883G>A, XM_047418418.1:c.2880G>A, XM_047418419.1:c.2895G>A, XM_047418420.1:c.2802G>A, XM_047418421.1:c.2892G>A, XM_047418422.1:c.2730G>A, XM_047418423.1:c.2811G>A, XM_047418424.1:c.2799G>A, XM_047418425.1:c.2730G>A, XM_047418426.1:c.2799G>A

Select item 4126550118.

rs41265501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:72274420 (GRCh38)
6:72984123 (GRCh37)
Canonical SPDI:: NC_000006.12:72274419:C:T
Gene:: RIMS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.031032/7641 (ALFA)
T=0.00463/1 (Qatari)
T=0.008333/5 (NorthernSweden)
T=0.009868/3 (FINRISK)
T=0.010563/12 (Daghestan)
T=0.011555/58 (1000Genomes)
T=0.0125/56 (Estonian)
T=0.015376/1210 (PAGE_STUDY)
T=0.021097/5251 (GnomAD_exomes)
T=0.02142/2541 (ExAC)
T=0.023044/3230 (GnomAD)
T=0.024497/6484 (TOPMED)
T=0.025046/302 (GoESP)
T=0.03006/30 (GoNL)
T=0.032953/127 (ALSPAC)
T=0.03425/127 (TWINSUK)
T=0.044944/24 (MGP)
C=0.416667/5 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000006.12:g.72274420C>T, NC_000006.11:g.72984123C>T, NG_016209.1:g.392474C>T, NM_014989.7:c.3470C>T, NM_014989.6:c.3470C>T, NM_014989.5:c.3470C>T, NM_001350437.2:c.1628C>T, NM_001350437.1:c.1628C>T, NM_001350433.2:c.1700C>T, NM_001350433.1:c.1700C>T, NM_001350415.2:c.1697C>T, NM_001350415.1:c.1697C>T, NM_001350435.2:c.1634C>T, NM_001350435.1:c.1634C>T, NM_001350445.2:c.1697C>T, NM_001350445.1:c.1697C>T, NP_055804.2:p.Pro1157Leu, NP_001337366.1:p.Pro543Leu, NP_001337362.1:p.Pro567Leu, NP_001337344.1:p.Pro566Leu, NP_001337364.1:p.Pro545Leu, NP_001337374.1:p.Pro566Leu

PubMed LitVar

Select item 4126550319.

rs41265503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:72402705 (GRCh38)
6:73112407 (GRCh37)
Canonical SPDI:: NC_000006.12:72402704:T:G
Gene:: RIMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.005627/170 (ALFA)
G=0.001563/7 (Estonian)
G=0.00406/20 (1000Genomes)
G=0.004107/12 (KOREAN)
G=0.004273/1131 (TOPMED)
G=0.004448/624 (GnomAD)
G=0.00463/1 (Qatari)
G=0.00499/84 (TOMMO)
G=0.005/3 (NorthernSweden)
G=0.007491/4 (MGP)
G=0.008016/8 (GoNL)
G=0.008091/30 (TWINSUK)
G=0.008303/32 (ALSPAC)
G=0.014019/3 (Vietnamese)
G=0.025/1 (GENOME_DK)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.72402705T>G, NC_000006.11:g.73112407T>G, NG_016209.1:g.520758T>G, NM_014989.7:c.*1991T>G, NM_014989.6:c.*1991T>G, NM_014989.5:c.*1991T>G, NM_001350436.2:c.*1991T>G, NM_001350436.1:c.*1991T>G, NM_001350446.2:c.*1991T>G, NM_001350446.1:c.*1991T>G, NM_001350456.2:c.*1991T>G, NM_001350456.1:c.*1991T>G, NM_001350420.2:c.*1991T>G, NM_001350420.1:c.*1991T>G, NM_001350437.2:c.*1991T>G, NM_001350437.1:c.*1991T>G, NM_001350431.2:c.*1991T>G, NM_001350431.1:c.*1991T>G, NM_001350433.2:c.*1991T>G, NM_001350433.1:c.*1991T>G, NM_001350415.2:c.*1991T>G, NM_001350415.1:c.*1991T>G, NM_001350459.2:c.*1991T>G, NM_001350459.1:c.*1991T>G, NM_001350421.2:c.*1991T>G, NM_001350421.1:c.*1991T>G, NM_001350458.2:c.*1991T>G, NM_001350458.1:c.*1991T>G, NM_001350416.2:c.*1991T>G, NM_001350416.1:c.*1991T>G, NM_001350448.2:c.*1991T>G, NM_001350448.1:c.*1991T>G, NM_001168407.2:c.*1991T>G, NM_001168407.1:c.*1991T>G, NM_001350462.2:c.*1991T>G, NM_001350462.1:c.*1991T>G, NM_001350418.2:c.*1991T>G, NM_001350418.1:c.*1991T>G, NM_001350471.2:c.*1991T>G, NM_001350471.1:c.*1991T>G, NM_001350414.2:c.*1991T>G, NM_001350414.1:c.*1991T>G, NM_001350425.2:c.*1991T>G, NM_001350425.1:c.*1991T>G, NM_001350435.2:c.*1991T>G, NM_001350435.1:c.*1991T>G, NM_001350457.2:c.*1991T>G, NM_001350457.1:c.*1991T>G, NM_001350439.2:c.*1991T>G, NM_001350439.1:c.*1991T>G, NM_001350441.2:c.*1991T>G, NM_001350441.1:c.*1991T>G, NM_001350454.2:c.*1991T>G, NM_001350454.1:c.*1991T>G, NM_001350443.2:c.*1991T>G, NM_001350443.1:c.*1991T>G, NM_001350460.2:c.*1991T>G, NM_001350460.1:c.*1991T>G, NM_001350447.2:c.*1991T>G, NM_001350447.1:c.*1991T>G, NM_001350469.2:c.*1991T>G, NM_001350469.1:c.*1991T>G, NM_001350429.2:c.*1991T>G, NM_001350429.1:c.*1991T>G, NM_001350444.2:c.*1991T>G, NM_001350444.1:c.*1991T>G, NM_001350461.2:c.*1991T>G, NM_001350461.1:c.*1991T>G, NM_001350474.2:c.*1991T>G, NM_001350474.1:c.*1991T>G, NM_001350423.2:c.*1991T>G, NM_001350423.1:c.*1991T>G, NM_001350466.2:c.*1991T>G, NM_001350466.1:c.*1991T>G, NM_001350464.2:c.*1991T>G, NM_001350464.1:c.*1991T>G, NM_001350463.2:c.*1991T>G, NM_001350463.1:c.*1991T>G, NM_001350442.2:c.*1991T>G, NM_001350442.1:c.*1991T>G, NM_001350438.2:c.*1991T>G, NM_001350438.1:c.*1991T>G, NM_001350467.2:c.*1991T>G, NM_001350467.1:c.*1991T>G, NM_001350428.2:c.*1991T>G, NM_001350428.1:c.*1991T>G, NM_001350430.2:c.*1991T>G, NM_001350430.1:c.*1991T>G, NM_001350445.2:c.*1991T>G, NM_001350445.1:c.*1991T>G, NM_001350468.2:c.*1991T>G, NM_001350468.1:c.*1991T>G, NM_001350434.2:c.*1991T>G, NM_001350434.1:c.*1991T>G, NM_001350424.2:c.*1991T>G, NM_001350424.1:c.*1991T>G, NM_001350450.2:c.*1991T>G, NM_001350450.1:c.*1991T>G, NM_001350417.2:c.*1991T>G, NM_001350417.1:c.*1991T>G, NM_001350422.2:c.*1991T>G, NM_001350422.1:c.*1991T>G, NM_001350470.2:c.*1991T>G, NM_001350470.1:c.*1991T>G, NM_001168410.2:c.*1991T>G, NM_001168410.1:c.*1991T>G, NM_001168408.2:c.*1991T>G, NM_001168408.1:c.*1991T>G, NM_001350427.2:c.*1991T>G, NM_001350427.1:c.*1991T>G, NM_001350449.2:c.*1991T>G, NM_001350449.1:c.*1991T>G, NM_001350473.2:c.*1991T>G, NM_001350473.1:c.*1991T>G, NM_001350472.2:c.*1991T>G, NM_001350472.1:c.*1991T>G, NM_001350426.2:c.*1991T>G, NM_001350426.1:c.*1991T>G, NM_001350440.2:c.*1991T>G, NM_001350440.1:c.*1991T>G, NM_001350432.2:c.*1991T>G, NM_001350432.1:c.*1991T>G, NM_001168409.2:c.*1991T>G, NM_001168409.1:c.*1991T>G, NM_001350455.2:c.*1991T>G, NM_001350455.1:c.*1991T>G, NM_001350419.2:c.*1991T>G, NM_001350419.1:c.*1991T>G, NM_001350465.2:c.*1991T>G, NM_001350465.1:c.*1991T>G, NM_001168411.2:c.*1991T>G, NM_001168411.1:c.*1991T>G, XM_011535604.4:c.*1991T>G, XM_011535604.3:c.*1991T>G, XM_011535604.2:c.*1991T>G, XM_011535604.1:c.*1991T>G, XM_017010516.3:c.*1991T>G, XM_017010516.2:c.*1991T>G, XM_017010516.1:c.*1991T>G, XM_017010517.3:c.*1991T>G, XM_017010517.2:c.*1991T>G, XM_017010517.1:c.*1991T>G, XM_017010518.3:c.*1991T>G, XM_017010518.2:c.*1991T>G, XM_017010518.1:c.*1991T>G, XM_017010519.3:c.*1991T>G, XM_017010519.2:c.*1991T>G, XM_017010519.1:c.*1991T>G, XM_017010520.3:c.*1991T>G, XM_017010520.2:c.*1991T>G, XM_017010520.1:c.*1991T>G, XM_017010521.3:c.*1991T>G, XM_017010521.2:c.*1991T>G, XM_017010521.1:c.*1991T>G, XM_017010522.3:c.*1991T>G, XM_017010522.2:c.*1991T>G, XM_017010522.1:c.*1991T>G, XM_017010525.3:c.*1991T>G, XM_017010525.2:c.*1991T>G, XM_017010525.1:c.*1991T>G, XM_017010537.3:c.*1991T>G, XM_017010537.2:c.*1991T>G, XM_017010537.1:c.*1991T>G, XM_017010544.3:c.*1991T>G, XM_017010544.2:c.*1991T>G, XM_017010544.1:c.*1991T>G, XM_017010546.3:c.*1991T>G, XM_017010546.2:c.*1991T>G, XM_017010546.1:c.*1991T>G, XM_024446369.2:c.*1991T>G, XM_024446369.1:c.*1991T>G, XM_024446372.2:c.*1991T>G, XM_024446372.1:c.*1991T>G, XM_047418416.1:c.*1991T>G, XM_047418417.1:c.*1991T>G, XM_047418418.1:c.*1991T>G, XM_047418419.1:c.*1991T>G, XM_047418420.1:c.*1991T>G, XM_047418421.1:c.*1991T>G, XM_047418422.1:c.*1991T>G, XM_047418423.1:c.*1991T>G, XM_047418424.1:c.*1991T>G, XM_047418425.1:c.*1991T>G, XM_047418426.1:c.*1991T>G

Select item 5564218120.

rs55642181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:72400852 (GRCh38)
6:73110554 (GRCh37)
Canonical SPDI:: NC_000006.12:72400851:G:A,NC_000006.12:72400851:G:T
Gene:: RIMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00334/63 (ALFA)
T=0.00007/1 (TOMMO)
T=0.00463/1 (Qatari)
T=0.005/25 (1000Genomes)
T=0.00601/6 (GoNL)
T=0.01124/6 (MGP)
T=0.01228/55 (Estonian)
T=0.01294/48 (TWINSUK)
T=0.01583/61 (ALSPAC)
T=0.04167/25 (NorthernSweden)
G=0.5/1 (Siberian)
HGVS:: NC_000006.12:g.72400852G>A, NC_000006.12:g.72400852G>T, NC_000006.11:g.73110554G>A, NC_000006.11:g.73110554G>T, NG_016209.1:g.518905G>A, NG_016209.1:g.518905G>T, NM_014989.7:c.*138G>A, NM_014989.7:c.*138G>T, NM_014989.6:c.*138G>A, NM_014989.6:c.*138G>T, NM_014989.5:c.*138G>A, NM_014989.5:c.*138G>T, NM_001350436.2:c.*138G>A, NM_001350436.2:c.*138G>T, NM_001350436.1:c.*138G>A, NM_001350436.1:c.*138G>T, NM_001350446.2:c.*138G>A, NM_001350446.2:c.*138G>T, NM_001350446.1:c.*138G>A, NM_001350446.1:c.*138G>T, NM_001350456.2:c.*138G>A, NM_001350456.2:c.*138G>T, NM_001350456.1:c.*138G>A, NM_001350456.1:c.*138G>T, NM_001350420.2:c.*138G>A, NM_001350420.2:c.*138G>T, NM_001350420.1:c.*138G>A, NM_001350420.1:c.*138G>T, NM_001350437.2:c.*138G>A, NM_001350437.2:c.*138G>T, NM_001350437.1:c.*138G>A, NM_001350437.1:c.*138G>T, NM_001350431.2:c.*138G>A, NM_001350431.2:c.*138G>T, NM_001350431.1:c.*138G>A, NM_001350431.1:c.*138G>T, NM_001350433.2:c.*138G>A, NM_001350433.2:c.*138G>T, NM_001350433.1:c.*138G>A, NM_001350433.1:c.*138G>T, NM_001350415.2:c.*138G>A, NM_001350415.2:c.*138G>T, NM_001350415.1:c.*138G>A, NM_001350415.1:c.*138G>T, NM_001350459.2:c.*138G>A, NM_001350459.2:c.*138G>T, NM_001350459.1:c.*138G>A, NM_001350459.1:c.*138G>T, NM_001350421.2:c.*138G>A, NM_001350421.2:c.*138G>T, NM_001350421.1:c.*138G>A, NM_001350421.1:c.*138G>T, NM_001350458.2:c.*138G>A, NM_001350458.2:c.*138G>T, NM_001350458.1:c.*138G>A, NM_001350458.1:c.*138G>T, NM_001350416.2:c.*138G>A, NM_001350416.2:c.*138G>T, NM_001350416.1:c.*138G>A, NM_001350416.1:c.*138G>T, NM_001350448.2:c.*138G>A, NM_001350448.2:c.*138G>T, NM_001350448.1:c.*138G>A, NM_001350448.1:c.*138G>T, NM_001168407.2:c.*138G>A, NM_001168407.2:c.*138G>T, NM_001168407.1:c.*138G>A, NM_001168407.1:c.*138G>T, NM_001350462.2:c.*138G>A, NM_001350462.2:c.*138G>T, NM_001350462.1:c.*138G>A, NM_001350462.1:c.*138G>T, NM_001350418.2:c.*138G>A, NM_001350418.2:c.*138G>T, NM_001350418.1:c.*138G>A, NM_001350418.1:c.*138G>T, NM_001350471.2:c.*138G>A, NM_001350471.2:c.*138G>T, NM_001350471.1:c.*138G>A, NM_001350471.1:c.*138G>T, NM_001350414.2:c.*138G>A, NM_001350414.2:c.*138G>T, NM_001350414.1:c.*138G>A, NM_001350414.1:c.*138G>T, NM_001350425.2:c.*138G>A, NM_001350425.2:c.*138G>T, NM_001350425.1:c.*138G>A, NM_001350425.1:c.*138G>T, NM_001350435.2:c.*138G>A, NM_001350435.2:c.*138G>T, NM_001350435.1:c.*138G>A, NM_001350435.1:c.*138G>T, NM_001350457.2:c.*138G>A, NM_001350457.2:c.*138G>T, NM_001350457.1:c.*138G>A, NM_001350457.1:c.*138G>T, NM_001350439.2:c.*138G>A, NM_001350439.2:c.*138G>T, NM_001350439.1:c.*138G>A, NM_001350439.1:c.*138G>T, NM_001350441.2:c.*138G>A, NM_001350441.2:c.*138G>T, NM_001350441.1:c.*138G>A, NM_001350441.1:c.*138G>T, NM_001350454.2:c.*138G>A, NM_001350454.2:c.*138G>T, NM_001350454.1:c.*138G>A, NM_001350454.1:c.*138G>T, NM_001350443.2:c.*138G>A, NM_001350443.2:c.*138G>T, NM_001350443.1:c.*138G>A, NM_001350443.1:c.*138G>T, NM_001350460.2:c.*138G>A, NM_001350460.2:c.*138G>T, NM_001350460.1:c.*138G>A, NM_001350460.1:c.*138G>T, NM_001350447.2:c.*138G>A, NM_001350447.2:c.*138G>T, NM_001350447.1:c.*138G>A, NM_001350447.1:c.*138G>T, NM_001350469.2:c.*138G>A, NM_001350469.2:c.*138G>T, NM_001350469.1:c.*138G>A, NM_001350469.1:c.*138G>T, NM_001350429.2:c.*138G>A, NM_001350429.2:c.*138G>T, NM_001350429.1:c.*138G>A, NM_001350429.1:c.*138G>T, NM_001350444.2:c.*138G>A, NM_001350444.2:c.*138G>T, NM_001350444.1:c.*138G>A, NM_001350444.1:c.*138G>T, NM_001350461.2:c.*138G>A, NM_001350461.2:c.*138G>T, NM_001350461.1:c.*138G>A, NM_001350461.1:c.*138G>T, NM_001350474.2:c.*138G>A, NM_001350474.2:c.*138G>T, NM_001350474.1:c.*138G>A, NM_001350474.1:c.*138G>T, NM_001350423.2:c.*138G>A, NM_001350423.2:c.*138G>T, NM_001350423.1:c.*138G>A, NM_001350423.1:c.*138G>T, NM_001350466.2:c.*138G>A, NM_001350466.2:c.*138G>T, NM_001350466.1:c.*138G>A, NM_001350466.1:c.*138G>T, NM_001350464.2:c.*138G>A, NM_001350464.2:c.*138G>T, NM_001350464.1:c.*138G>A, NM_001350464.1:c.*138G>T, NM_001350463.2:c.*138G>A, NM_001350463.2:c.*138G>T, NM_001350463.1:c.*138G>A, NM_001350463.1:c.*138G>T, NM_001350442.2:c.*138G>A, NM_001350442.2:c.*138G>T, NM_001350442.1:c.*138G>A, NM_001350442.1:c.*138G>T, NM_001350438.2:c.*138G>A, NM_001350438.2:c.*138G>T, NM_001350438.1:c.*138G>A, NM_001350438.1:c.*138G>T, NM_001350467.2:c.*138G>A, NM_001350467.2:c.*138G>T, NM_001350467.1:c.*138G>A, NM_001350467.1:c.*138G>T, NM_001350428.2:c.*138G>A, NM_001350428.2:c.*138G>T, NM_001350428.1:c.*138G>A, NM_001350428.1:c.*138G>T, NM_001350430.2:c.*138G>A, NM_001350430.2:c.*138G>T, NM_001350430.1:c.*138G>A, NM_001350430.1:c.*138G>T, NM_001350445.2:c.*138G>A, NM_001350445.2:c.*138G>T, NM_001350445.1:c.*138G>A, NM_001350445.1:c.*138G>T, NM_001350468.2:c.*138G>A, NM_001350468.2:c.*138G>T, NM_001350468.1:c.*138G>A, NM_001350468.1:c.*138G>T, NM_001350434.2:c.*138G>A, NM_001350434.2:c.*138G>T, NM_001350434.1:c.*138G>A, NM_001350434.1:c.*138G>T, NM_001350424.2:c.*138G>A, NM_001350424.2:c.*138G>T, NM_001350424.1:c.*138G>A, NM_001350424.1:c.*138G>T, NM_001350450.2:c.*138G>A, NM_001350450.2:c.*138G>T, NM_001350450.1:c.*138G>A, NM_001350450.1:c.*138G>T, NM_001350417.2:c.*138G>A, NM_001350417.2:c.*138G>T, NM_001350417.1:c.*138G>A, NM_001350417.1:c.*138G>T, NM_001350422.2:c.*138G>A, NM_001350422.2:c.*138G>T, NM_001350422.1:c.*138G>A, NM_001350422.1:c.*138G>T, NM_001350470.2:c.*138G>A, NM_001350470.2:c.*138G>T, NM_001350470.1:c.*138G>A, NM_001350470.1:c.*138G>T, NM_001168410.2:c.*138G>A, NM_001168410.2:c.*138G>T, NM_001168410.1:c.*138G>A, NM_001168410.1:c.*138G>T, NM_001168408.2:c.*138G>A, NM_001168408.2:c.*138G>T, NM_001168408.1:c.*138G>A, NM_001168408.1:c.*138G>T, NM_001350427.2:c.*138G>A, NM_001350427.2:c.*138G>T, NM_001350427.1:c.*138G>A, NM_001350427.1:c.*138G>T, NM_001350449.2:c.*138G>A, NM_001350449.2:c.*138G>T, NM_001350449.1:c.*138G>A, NM_001350449.1:c.*138G>T, NM_001350473.2:c.*138G>A, NM_001350473.2:c.*138G>T, NM_001350473.1:c.*138G>A, NM_001350473.1:c.*138G>T, NM_001350472.2:c.*138G>A, NM_001350472.2:c.*138G>T, NM_001350472.1:c.*138G>A, NM_001350472.1:c.*138G>T, NM_001350426.2:c.*138G>A, NM_001350426.2:c.*138G>T, NM_001350426.1:c.*138G>A, NM_001350426.1:c.*138G>T, NM_001350440.2:c.*138G>A, NM_001350440.2:c.*138G>T, NM_001350440.1:c.*138G>A, NM_001350440.1:c.*138G>T, NM_001350432.2:c.*138G>A, NM_001350432.2:c.*138G>T, NM_001350432.1:c.*138G>A, NM_001350432.1:c.*138G>T, NM_001168409.2:c.*138G>A, NM_001168409.2:c.*138G>T, NM_001168409.1:c.*138G>A, NM_001168409.1:c.*138G>T, NM_001350455.2:c.*138G>A, NM_001350455.2:c.*138G>T, NM_001350455.1:c.*138G>A, NM_001350455.1:c.*138G>T, NM_001350419.2:c.*138G>A, NM_001350419.2:c.*138G>T, NM_001350419.1:c.*138G>A, NM_001350419.1:c.*138G>T, NM_001350465.2:c.*138G>A, NM_001350465.2:c.*138G>T, NM_001350465.1:c.*138G>A, NM_001350465.1:c.*138G>T, NM_001168411.2:c.*138G>A, NM_001168411.2:c.*138G>T, NM_001168411.1:c.*138G>A, NM_001168411.1:c.*138G>T, XM_011535604.4:c.*138G>A, XM_011535604.4:c.*138G>T, XM_011535604.3:c.*138G>A, XM_011535604.3:c.*138G>T, XM_011535604.2:c.*138G>A, XM_011535604.2:c.*138G>T, XM_011535604.1:c.*138G>A, XM_011535604.1:c.*138G>T, XM_017010516.3:c.*138G>A, XM_017010516.3:c.*138G>T, XM_017010516.2:c.*138G>A, XM_017010516.2:c.*138G>T, XM_017010516.1:c.*138G>A, XM_017010516.1:c.*138G>T, XM_017010517.3:c.*138G>A, XM_017010517.3:c.*138G>T, XM_017010517.2:c.*138G>A, XM_017010517.2:c.*138G>T, XM_017010517.1:c.*138G>A, XM_017010517.1:c.*138G>T, XM_017010518.3:c.*138G>A, XM_017010518.3:c.*138G>T, XM_017010518.2:c.*138G>A, XM_017010518.2:c.*138G>T, XM_017010518.1:c.*138G>A, XM_017010518.1:c.*138G>T, XM_017010519.3:c.*138G>A, XM_017010519.3:c.*138G>T, XM_017010519.2:c.*138G>A, XM_017010519.2:c.*138G>T, XM_017010519.1:c.*138G>A, XM_017010519.1:c.*138G>T, XM_017010520.3:c.*138G>A, XM_017010520.3:c.*138G>T, XM_017010520.2:c.*138G>A, XM_017010520.2:c.*138G>T, XM_017010520.1:c.*138G>A, XM_017010520.1:c.*138G>T, XM_017010521.3:c.*138G>A, XM_017010521.3:c.*138G>T, XM_017010521.2:c.*138G>A, XM_017010521.2:c.*138G>T, XM_017010521.1:c.*138G>A, XM_017010521.1:c.*138G>T, XM_017010522.3:c.*138G>A, XM_017010522.3:c.*138G>T, XM_017010522.2:c.*138G>A, XM_017010522.2:c.*138G>T, XM_017010522.1:c.*138G>A, XM_017010522.1:c.*138G>T, XM_017010525.3:c.*138G>A, XM_017010525.3:c.*138G>T, XM_017010525.2:c.*138G>A, XM_017010525.2:c.*138G>T, XM_017010525.1:c.*138G>A, XM_017010525.1:c.*138G>T, XM_017010537.3:c.*138G>A, XM_017010537.3:c.*138G>T, XM_017010537.2:c.*138G>A, XM_017010537.2:c.*138G>T, XM_017010537.1:c.*138G>A, XM_017010537.1:c.*138G>T, XM_017010544.3:c.*138G>A, XM_017010544.3:c.*138G>T, XM_017010544.2:c.*138G>A, XM_017010544.2:c.*138G>T, XM_017010544.1:c.*138G>A, XM_017010544.1:c.*138G>T, XM_017010546.3:c.*138G>A, XM_017010546.3:c.*138G>T, XM_017010546.2:c.*138G>A, XM_017010546.2:c.*138G>T, XM_017010546.1:c.*138G>A, XM_017010546.1:c.*138G>T, XM_024446369.2:c.*138G>A, XM_024446369.2:c.*138G>T, XM_024446369.1:c.*138G>A, XM_024446369.1:c.*138G>T, XM_024446372.2:c.*138G>A, XM_024446372.2:c.*138G>T, XM_024446372.1:c.*138G>A, XM_024446372.1:c.*138G>T, XM_047418416.1:c.*138G>A, XM_047418416.1:c.*138G>T, XM_047418417.1:c.*138G>A, XM_047418417.1:c.*138G>T, XM_047418418.1:c.*138G>A, XM_047418418.1:c.*138G>T, XM_047418419.1:c.*138G>A, XM_047418419.1:c.*138G>T, XM_047418420.1:c.*138G>A, XM_047418420.1:c.*138G>T, XM_047418421.1:c.*138G>A, XM_047418421.1:c.*138G>T, XM_047418422.1:c.*138G>A, XM_047418422.1:c.*138G>T, XM_047418423.1:c.*138G>A, XM_047418423.1:c.*138G>T, XM_047418424.1:c.*138G>A, XM_047418424.1:c.*138G>T, XM_047418425.1:c.*138G>A, XM_047418425.1:c.*138G>T, XM_047418426.1:c.*138G>A, XM_047418426.1:c.*138G>T

<< First< Prev

Page of 9603

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 192055

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity