RAB33B - SNP

Search results

Items: 1 to 20 of 14811

<< First< Prev

Page of 741

Next >Last >>

Select item 30883131.

rs3088313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:139475777 (GRCh38)
4:140396931 (GRCh37)
Canonical SPDI:: NC_000004.12:139475776:C:A,NC_000004.12:139475776:C:T
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.234019/31323 (ALFA)
A=0.114629/210 (Korea1K)
A=0.120465/352 (KOREAN)
A=0.180556/39 (Qatari)
A=0.214953/46 (Vietnamese)
A=0.225172/1128 (1000Genomes)
A=0.232558/440 (HapMap)
A=0.250501/250 (GoNL)
A=0.254688/1141 (Estonian)
A=0.255578/67649 (TOPMED)
A=0.257135/991 (ALSPAC)
A=0.25836/958 (TWINSUK)
A=0.295/177 (NorthernSweden)
A=0.325/13 (GENOME_DK)
C=0.4/80 (SGDP_PRJ)
C=0.4375/7 (Siberian)
HGVS:: NC_000004.12:g.139475777C>A, NC_000004.12:g.139475777C>T, NC_000004.11:g.140396931C>A, NC_000004.11:g.140396931C>T, NG_051587.1:g.27546C>A, NG_051587.1:g.27546C>T, NM_031296.3:c.*2651C>A, NM_031296.3:c.*2651C>T, NM_031296.2:c.*2651C>A, NM_031296.2:c.*2651C>T, NM_031296.1:c.*2651C>A, NM_031296.1:c.*2651C>T, XM_011532299.2:c.*2651C>A, XM_011532299.2:c.*2651C>T, XM_011532299.1:c.*2651C>A, XM_011532299.1:c.*2651C>T

Select item 40749402.

rs4074940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:139474429 (GRCh38)
4:140395583 (GRCh37)
Canonical SPDI:: NC_000004.12:139474428:C:T
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.233598/47221 (ALFA)
T=0./0 (PRJEB36033)
T=0.10167/1704 (TOMMO)
T=0.114629/210 (Korea1K)
T=0.120808/353 (KOREAN)
T=0.147246/278 (HapMap)
T=0.148148/32 (Qatari)
T=0.154591/774 (1000Genomes)
T=0.158349/330 (HGDP_Stanford)
T=0.18295/48425 (TOPMED)
T=0.193801/27131 (GnomAD)
T=0.20283/43 (Vietnamese)
T=0.251503/251 (GoNL)
T=0.254688/1141 (Estonian)
T=0.257395/992 (ALSPAC)
T=0.259169/961 (TWINSUK)
T=0.295/177 (NorthernSweden)
T=0.325/13 (GENOME_DK)
C=0.405063/64 (SGDP_PRJ)
C=0.4375/7 (Siberian)
HGVS:: NC_000004.12:g.139474429C>T, NC_000004.11:g.140395583C>T, NG_051587.1:g.26198C>T, NM_031296.3:c.*1303C>T, NM_031296.2:c.*1303C>T, NM_031296.1:c.*1303C>T, XM_011532299.2:c.*1303C>T, XM_011532299.1:c.*1303C>T

Select item 41317973.

rs4131797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:139473639 (GRCh38)
4:140394793 (GRCh37)
Canonical SPDI:: NC_000004.12:139473638:C:T
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000971/14 (ALFA)
T=0.001583/222 (GnomAD)
T=0.001708/452 (TOPMED)
T=0.002342/12 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.139473639C>T, NC_000004.11:g.140394793C>T, NG_051587.1:g.25408C>T, NM_031296.3:c.*513C>T, NM_031296.2:c.*513C>T, NM_031296.1:c.*513C>T, XM_011532299.2:c.*513C>T, XM_011532299.1:c.*513C>T

Select item 41317984.

rs4131798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:139473702 (GRCh38)
4:140394856 (GRCh37)
Canonical SPDI:: NC_000004.12:139473701:T:C
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000951/14 (ALFA)
C=0.001599/224 (GnomAD)
C=0.001711/453 (TOPMED)
C=0.002342/12 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.139473702T>C, NC_000004.11:g.140394856T>C, NG_051587.1:g.25471T>C, NM_031296.3:c.*576T>C, NM_031296.2:c.*576T>C, NM_031296.1:c.*576T>C, XM_011532299.2:c.*576T>C, XM_011532299.1:c.*576T>C

Select item 106041115.

rs10604111 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:139473910 (GRCh38)
4:140395064 (GRCh37)
Canonical SPDI:: NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:139473902:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.139473910_139473923del, NC_000004.12:g.139473911_139473923del, NC_000004.12:g.139473912_139473923del, NC_000004.12:g.139473913_139473923del, NC_000004.12:g.139473914_139473923del, NC_000004.12:g.139473915_139473923del, NC_000004.12:g.139473917_139473923del, NC_000004.12:g.139473919_139473923del, NC_000004.12:g.139473920_139473923del, NC_000004.12:g.139473921_139473923del, NC_000004.12:g.139473922_139473923del, NC_000004.12:g.139473923del, NC_000004.12:g.139473923dup, NC_000004.12:g.139473922_139473923dup, NC_000004.12:g.139473921_139473923dup, NC_000004.12:g.139473920_139473923dup, NC_000004.12:g.139473919_139473923dup, NC_000004.12:g.139473918_139473923dup, NC_000004.12:g.139473917_139473923dup, NC_000004.12:g.139473916_139473923dup, NC_000004.12:g.139473915_139473923dup, NC_000004.12:g.139473914_139473923dup, NC_000004.12:g.139473913_139473923dup, NC_000004.12:g.139473912_139473923dup, NC_000004.12:g.139473911_139473923dup, NC_000004.12:g.139473923_139473924insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.140395064_140395077del, NC_000004.11:g.140395065_140395077del, NC_000004.11:g.140395066_140395077del, NC_000004.11:g.140395067_140395077del, NC_000004.11:g.140395068_140395077del, NC_000004.11:g.140395069_140395077del, NC_000004.11:g.140395071_140395077del, NC_000004.11:g.140395073_140395077del, NC_000004.11:g.140395074_140395077del, NC_000004.11:g.140395075_140395077del, NC_000004.11:g.140395076_140395077del, NC_000004.11:g.140395077del, NC_000004.11:g.140395077dup, NC_000004.11:g.140395076_140395077dup, NC_000004.11:g.140395075_140395077dup, NC_000004.11:g.140395074_140395077dup, NC_000004.11:g.140395073_140395077dup, NC_000004.11:g.140395072_140395077dup, NC_000004.11:g.140395071_140395077dup, NC_000004.11:g.140395070_140395077dup, NC_000004.11:g.140395069_140395077dup, NC_000004.11:g.140395068_140395077dup, NC_000004.11:g.140395067_140395077dup, NC_000004.11:g.140395066_140395077dup, NC_000004.11:g.140395065_140395077dup, NC_000004.11:g.140395077_140395078insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051587.1:g.25679_25692del, NG_051587.1:g.25680_25692del, NG_051587.1:g.25681_25692del, NG_051587.1:g.25682_25692del, NG_051587.1:g.25683_25692del, NG_051587.1:g.25684_25692del, NG_051587.1:g.25686_25692del, NG_051587.1:g.25688_25692del, NG_051587.1:g.25689_25692del, NG_051587.1:g.25690_25692del, NG_051587.1:g.25691_25692del, NG_051587.1:g.25692del, NG_051587.1:g.25692dup, NG_051587.1:g.25691_25692dup, NG_051587.1:g.25690_25692dup, NG_051587.1:g.25689_25692dup, NG_051587.1:g.25688_25692dup, NG_051587.1:g.25687_25692dup, NG_051587.1:g.25686_25692dup, NG_051587.1:g.25685_25692dup, NG_051587.1:g.25684_25692dup, NG_051587.1:g.25683_25692dup, NG_051587.1:g.25682_25692dup, NG_051587.1:g.25681_25692dup, NG_051587.1:g.25680_25692dup, NG_051587.1:g.25692_25693insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031296.3:c.*784_*797del, NM_031296.3:c.*785_*797del, NM_031296.3:c.*786_*797del, NM_031296.3:c.*787_*797del, NM_031296.3:c.*788_*797del, NM_031296.3:c.*789_*797del, NM_031296.3:c.*791_*797del, NM_031296.3:c.*793_*797del, NM_031296.3:c.*794_*797del, NM_031296.3:c.*795_*797del, NM_031296.3:c.*796_*797del, NM_031296.3:c.*797del, NM_031296.3:c.*797dup, NM_031296.3:c.*796_*797dup, NM_031296.3:c.*795_*797dup, NM_031296.3:c.*794_*797dup, NM_031296.3:c.*793_*797dup, NM_031296.3:c.*792_*797dup, NM_031296.3:c.*791_*797dup, NM_031296.3:c.*790_*797dup, NM_031296.3:c.*789_*797dup, NM_031296.3:c.*788_*797dup, NM_031296.3:c.*787_*797dup, NM_031296.3:c.*786_*797dup, NM_031296.3:c.*785_*797dup, NM_031296.3:c.*797_*798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031296.2:c.*784_*797del, NM_031296.2:c.*785_*797del, NM_031296.2:c.*786_*797del, NM_031296.2:c.*787_*797del, NM_031296.2:c.*788_*797del, NM_031296.2:c.*789_*797del, NM_031296.2:c.*791_*797del, NM_031296.2:c.*793_*797del, NM_031296.2:c.*794_*797del, NM_031296.2:c.*795_*797del, NM_031296.2:c.*796_*797del, NM_031296.2:c.*797del, NM_031296.2:c.*797dup, NM_031296.2:c.*796_*797dup, NM_031296.2:c.*795_*797dup, NM_031296.2:c.*794_*797dup, NM_031296.2:c.*793_*797dup, NM_031296.2:c.*792_*797dup, NM_031296.2:c.*791_*797dup, NM_031296.2:c.*790_*797dup, NM_031296.2:c.*789_*797dup, NM_031296.2:c.*788_*797dup, NM_031296.2:c.*787_*797dup, NM_031296.2:c.*786_*797dup, NM_031296.2:c.*785_*797dup, NM_031296.2:c.*797_*798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_031296.1:c.*784_*797del, NM_031296.1:c.*785_*797del, NM_031296.1:c.*786_*797del, NM_031296.1:c.*787_*797del, NM_031296.1:c.*788_*797del, NM_031296.1:c.*789_*797del, NM_031296.1:c.*791_*797del, NM_031296.1:c.*793_*797del, NM_031296.1:c.*794_*797del, NM_031296.1:c.*795_*797del, NM_031296.1:c.*796_*797del, NM_031296.1:c.*797del, NM_031296.1:c.*797dup, NM_031296.1:c.*796_*797dup, NM_031296.1:c.*795_*797dup, NM_031296.1:c.*794_*797dup, NM_031296.1:c.*793_*797dup, NM_031296.1:c.*792_*797dup, NM_031296.1:c.*791_*797dup, NM_031296.1:c.*790_*797dup, NM_031296.1:c.*789_*797dup, NM_031296.1:c.*788_*797dup, NM_031296.1:c.*787_*797dup, NM_031296.1:c.*786_*797dup, NM_031296.1:c.*785_*797dup, NM_031296.1:c.*797_*798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011532299.2:c.*784_*797del, XM_011532299.2:c.*785_*797del, XM_011532299.2:c.*786_*797del, XM_011532299.2:c.*787_*797del, XM_011532299.2:c.*788_*797del, XM_011532299.2:c.*789_*797del, XM_011532299.2:c.*791_*797del, XM_011532299.2:c.*793_*797del, XM_011532299.2:c.*794_*797del, XM_011532299.2:c.*795_*797del, XM_011532299.2:c.*796_*797del, XM_011532299.2:c.*797del, XM_011532299.2:c.*797dup, XM_011532299.2:c.*796_*797dup, XM_011532299.2:c.*795_*797dup, XM_011532299.2:c.*794_*797dup, XM_011532299.2:c.*793_*797dup, XM_011532299.2:c.*792_*797dup, XM_011532299.2:c.*791_*797dup, XM_011532299.2:c.*790_*797dup, XM_011532299.2:c.*789_*797dup, XM_011532299.2:c.*788_*797dup, XM_011532299.2:c.*787_*797dup, XM_011532299.2:c.*786_*797dup, XM_011532299.2:c.*785_*797dup, XM_011532299.2:c.*797_*798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011532299.1:c.*784_*797del, XM_011532299.1:c.*785_*797del, XM_011532299.1:c.*786_*797del, XM_011532299.1:c.*787_*797del, XM_011532299.1:c.*788_*797del, XM_011532299.1:c.*789_*797del, XM_011532299.1:c.*791_*797del, XM_011532299.1:c.*793_*797del, XM_011532299.1:c.*794_*797del, XM_011532299.1:c.*795_*797del, XM_011532299.1:c.*796_*797del, XM_011532299.1:c.*797del, XM_011532299.1:c.*797dup, XM_011532299.1:c.*796_*797dup, XM_011532299.1:c.*795_*797dup, XM_011532299.1:c.*794_*797dup, XM_011532299.1:c.*793_*797dup, XM_011532299.1:c.*792_*797dup, XM_011532299.1:c.*791_*797dup, XM_011532299.1:c.*790_*797dup, XM_011532299.1:c.*789_*797dup, XM_011532299.1:c.*788_*797dup, XM_011532299.1:c.*787_*797dup, XM_011532299.1:c.*786_*797dup, XM_011532299.1:c.*785_*797dup, XM_011532299.1:c.*797_*798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 131266176.

rs13126617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:139453991 (GRCh38)
4:140375145 (GRCh37)
Canonical SPDI:: NC_000004.12:139453990:G:A,NC_000004.12:139453990:G:C
Gene:: RAB33B (Varview), RAB33B-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.228081/4308 (ALFA)
C=0.127734/2141 (TOMMO)
C=0.143519/31 (Qatari)
C=0.144633/256 (Korea1K)
C=0.156423/453 (KOREAN)
C=0.166927/836 (1000Genomes)
C=0.193853/51311 (TOPMED)
C=0.203812/28554 (GnomAD)
C=0.236111/51 (Vietnamese)
C=0.255248/1143 (Estonian)
C=0.268812/1036 (ALSPAC)
C=0.269687/1000 (TWINSUK)
C=0.298333/179 (NorthernSweden)
C=0.35/14 (GENOME_DK)
G=0.404762/68 (SGDP_PRJ)
G=0.4375/7 (Siberian)
HGVS:: NC_000004.12:g.139453991G>A, NC_000004.12:g.139453991G>C, NC_000004.11:g.140375145G>A, NC_000004.11:g.140375145G>C, NG_051587.1:g.5760G>A, NG_051587.1:g.5760G>C, NM_031296.2:c.-205G>A, NM_031296.2:c.-205G>C, NM_031296.1:c.-205G>A, NM_031296.1:c.-205G>C, NR_159964.1:n.51C>T, NR_159964.1:n.51C>G, NR_159963.1:n.51C>T, NR_159963.1:n.51C>G

Select item 131284867.

rs13128486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:139454142 (GRCh38)
4:140375296 (GRCh37)
Canonical SPDI:: NC_000004.12:139454141:C:G,NC_000004.12:139454141:C:T
Gene:: RAB33B (Varview), RAB33B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.134733/1990 (ALFA)
G=0.128362/2151 (TOMMO)
G=0.146288/268 (Korea1K)
G=0.148148/32 (Qatari)
G=0.149417/436 (KOREAN)
G=0.167395/838 (1000Genomes)
G=0.177903/95 (MGP)
G=0.195806/51828 (TOPMED)
G=0.244526/67 (FINRISK)
G=0.24537/53 (Vietnamese)
G=0.257589/1154 (Estonian)
G=0.269148/998 (TWINSUK)
G=0.26959/1039 (ALSPAC)
G=0.298333/179 (NorthernSweden)
G=0.35/14 (GENOME_DK)
C=0.412791/71 (SGDP_PRJ)
C=0.4375/7 (Siberian)
HGVS:: NC_000004.12:g.139454142C>G, NC_000004.12:g.139454142C>T, NC_000004.11:g.140375296C>G, NC_000004.11:g.140375296C>T, NG_051587.1:g.5911C>G, NG_051587.1:g.5911C>T, NM_031296.3:c.-54C>G, NM_031296.3:c.-54C>T, NM_031296.2:c.-54C>G, NM_031296.2:c.-54C>T, NM_031296.1:c.-54C>G, NM_031296.1:c.-54C>T

Select item 131379978.

rs13137997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:139473721 (GRCh38)
4:140394875 (GRCh37)
Canonical SPDI:: NC_000004.12:139473720:G:A
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.169949/17447 (ALFA)
A=0./0 (PRJEB36033)
A=0.038856/651 (TOMMO)
A=0.042031/77 (Korea1K)
A=0.046201/135 (KOREAN)
A=0.061905/13 (Vietnamese)
A=0.095852/171 (HapMap)
A=0.100718/504 (1000Genomes)
A=0.101727/212 (HGDP_Stanford)
A=0.127697/33800 (TOPMED)
A=0.134259/29 (Qatari)
A=0.136143/19044 (GnomAD)
A=0.174554/782 (Estonian)
A=0.178357/178 (GoNL)
A=0.184743/712 (ALSPAC)
A=0.190939/708 (TWINSUK)
A=0.191547/213 (Daghestan)
A=0.191667/115 (NorthernSweden)
A=0.2/8 (GENOME_DK)
G=0.333333/2 (Siberian)
G=0.428571/42 (SGDP_PRJ)
HGVS:: NC_000004.12:g.139473721G>A, NC_000004.11:g.140394875G>A, NG_051587.1:g.25490G>A, NM_031296.3:c.*595G>A, NM_031296.2:c.*595G>A, NM_031296.1:c.*595G>A, XM_011532299.2:c.*595G>A, XM_011532299.1:c.*595G>A

Select item 756613329.

rs75661332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:139474529 (GRCh38)
4:140395683 (GRCh37)
Canonical SPDI:: NC_000004.12:139474528:C:A,NC_000004.12:139474528:C:G
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00683/127 (ALFA)
A=0.00071/12 (TOMMO)
A=0.00171/5 (KOREAN)
A=0.00218/4 (Korea1K)
A=0.00375/2 (MGP)
A=0.00463/1 (Qatari)
A=0.0114/57 (1000Genomes)
A=0.02/12 (NorthernSweden)
A=0.0218/84 (ALSPAC)
A=0.02405/24 (GoNL)
A=0.02478/111 (Estonian)
A=0.02535/94 (TWINSUK)
C=0.42857/6 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000004.12:g.139474529C>A, NC_000004.12:g.139474529C>G, NC_000004.11:g.140395683C>A, NC_000004.11:g.140395683C>G, NG_051587.1:g.26298C>A, NG_051587.1:g.26298C>G, NM_031296.3:c.*1403C>A, NM_031296.3:c.*1403C>G, NM_031296.2:c.*1403C>A, NM_031296.2:c.*1403C>G, NM_031296.1:c.*1403C>A, NM_031296.1:c.*1403C>G, XM_011532299.2:c.*1403C>A, XM_011532299.2:c.*1403C>G, XM_011532299.1:c.*1403C>A, XM_011532299.1:c.*1403C>G

Select item 7659316110.

rs76593161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:139454032 (GRCh38)
4:140375186 (GRCh37)
Canonical SPDI:: NC_000004.12:139454031:G:A
Gene:: RAB33B (Varview), RAB33B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001376/26 (ALFA)
A=0.002119/297 (GnomAD)
A=0.002679/12 (Estonian)
A=0.002713/718 (TOPMED)
A=0.006667/4 (NorthernSweden)
A=0.011399/57 (1000Genomes)
A=0.072069/209 (KOREAN)
A=0.075241/1261 (TOMMO)
A=0.078704/17 (Vietnamese)
G=0.4/4 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000004.12:g.139454032G>A, NC_000004.11:g.140375186G>A, NG_051587.1:g.5801G>A, NM_031296.2:c.-164G>A, NM_031296.1:c.-164G>A, NR_159964.1:n.10C>T, NR_159963.1:n.10C>T

Select item 7749060011.

rs77490600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:139473902 (GRCh38)
4:140395056 (GRCh37)
Canonical SPDI:: NC_000004.12:139473901:C:A,NC_000004.12:139473901:C:T
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000887/15 (TOMMO)
T=0.128855/376 (KOREAN)
T=0.300926/65 (Qatari)
C=0.5/1 (Siberian)
C=0.5/9 (SGDP_PRJ)
HGVS:: NC_000004.12:g.139473902C>A, NC_000004.12:g.139473902C>T, NC_000004.11:g.140395056C>A, NC_000004.11:g.140395056C>T, NG_051587.1:g.25671C>A, NG_051587.1:g.25671C>T, NM_031296.3:c.*776C>A, NM_031296.3:c.*776C>T, NM_031296.2:c.*776C>A, NM_031296.2:c.*776C>T, NM_031296.1:c.*776C>A, NM_031296.1:c.*776C>T, XM_011532299.2:c.*776C>A, XM_011532299.2:c.*776C>T, XM_011532299.1:c.*776C>A, XM_011532299.1:c.*776C>T

Select item 7819259412.

rs78192594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:139473380 (GRCh38)
4:140394534 (GRCh37)
Canonical SPDI:: NC_000004.12:139473379:A:G
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.057938/1751 (ALFA)
G=0.000546/1 (Korea1K)
G=0.00463/1 (Qatari)
G=0.016084/81 (1000Genomes)
G=0.035237/9327 (TOPMED)
G=0.041277/5790 (GnomAD)
G=0.067691/251 (TWINSUK)
G=0.071614/276 (ALSPAC)
G=0.073146/73 (GoNL)
G=0.079687/357 (Estonian)
G=0.103333/62 (NorthernSweden)
G=0.125/5 (GENOME_DK)
A=0.5/4 (SGDP_PRJ)
A=0.5/4 (Siberian)
HGVS:: NC_000004.12:g.139473380A>G, NC_000004.11:g.140394534A>G, NG_051587.1:g.25149A>G, NM_031296.3:c.*254A>G, NM_031296.2:c.*254A>G, NM_031296.1:c.*254A>G, XM_011532299.2:c.*254A>G, XM_011532299.1:c.*254A>G

Select item 7860719813.

rs78607198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:139473716 (GRCh38)
4:140394870 (GRCh37)
Canonical SPDI:: NC_000004.12:139473715:T:C
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.008361/219 (ALFA)
C=0.00463/1 (Qatari)
C=0.01799/2520 (GnomAD)
C=0.018426/92 (1000Genomes)
C=0.018803/4977 (TOPMED)
T=0.5/4 (SGDP_PRJ)
HGVS:: NC_000004.12:g.139473716T>C, NC_000004.11:g.140394870T>C, NG_051587.1:g.25485T>C, NM_031296.3:c.*590T>C, NM_031296.2:c.*590T>C, NM_031296.1:c.*590T>C, XM_011532299.2:c.*590T>C, XM_011532299.1:c.*590T>C

Select item 7995207814.

rs79952078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:139473669 (GRCh38)
4:140394823 (GRCh37)
Canonical SPDI:: NC_000004.12:139473668:C:G,NC_000004.12:139473668:C:T
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.084578/2515 (ALFA)
T=0.000071/1 (TOMMO)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
T=0.009259/2 (Qatari)
T=0.031855/160 (1000Genomes)
T=0.035087/2760 (PAGE_STUDY)
T=0.070705/18715 (TOPMED)
T=0.096667/58 (NorthernSweden)
T=0.12247/472 (ALSPAC)
T=0.124326/461 (TWINSUK)
T=0.136273/136 (GoNL)
T=0.165402/741 (Estonian)
T=0.2/8 (GENOME_DK)
C=0.470588/16 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000004.12:g.139473669C>G, NC_000004.12:g.139473669C>T, NC_000004.11:g.140394823C>G, NC_000004.11:g.140394823C>T, NG_051587.1:g.25438C>G, NG_051587.1:g.25438C>T, NM_031296.3:c.*543C>G, NM_031296.3:c.*543C>T, NM_031296.2:c.*543C>G, NM_031296.2:c.*543C>T, NM_031296.1:c.*543C>G, NM_031296.1:c.*543C>T, XM_011532299.2:c.*543C>G, XM_011532299.2:c.*543C>T, XM_011532299.1:c.*543C>G, XM_011532299.1:c.*543C>T

Select item 11416951315.

rs114169513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:139474877 (GRCh38)
4:140396031 (GRCh37)
Canonical SPDI:: NC_000004.12:139474876:G:A,NC_000004.12:139474876:G:T
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00132/25 (ALFA)
T=0.00109/5 (1000Genomes)
T=0.00187/1 (MGP)
T=0.00402/18 (Estonian)
T=0.00802/8 (GoNL)
T=0.00833/5 (NorthernSweden)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.139474877G>A, NC_000004.12:g.139474877G>T, NC_000004.11:g.140396031G>A, NC_000004.11:g.140396031G>T, NG_051587.1:g.26646G>A, NG_051587.1:g.26646G>T, NM_031296.3:c.*1751G>A, NM_031296.3:c.*1751G>T, NM_031296.2:c.*1751G>A, NM_031296.2:c.*1751G>T, NM_031296.1:c.*1751G>A, NM_031296.1:c.*1751G>T, XM_011532299.2:c.*1751G>A, XM_011532299.2:c.*1751G>T, XM_011532299.1:c.*1751G>A, XM_011532299.1:c.*1751G>T

Select item 11558278416.

rs115582784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:139474203 (GRCh38)
4:140395357 (GRCh37)
Canonical SPDI:: NC_000004.12:139474202:G:A
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.004172/107 (ALFA)
A=0./0 (PRJEB36033)
A=0.008783/1230 (GnomAD)
A=0.009259/2 (Qatari)
A=0.009687/2564 (TOPMED)
A=0.011399/57 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.139474203G>A, NC_000004.11:g.140395357G>A, NG_051587.1:g.25972G>A, NM_031296.3:c.*1077G>A, NM_031296.2:c.*1077G>A, NM_031296.1:c.*1077G>A, XM_011532299.2:c.*1077G>A, XM_011532299.1:c.*1077G>A

Select item 13853436717.

rs138534367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:139454330 (GRCh38)
4:140375484 (GRCh37)
Canonical SPDI:: NC_000004.12:139454329:C:G
Gene:: RAB33B (Varview), RAB33B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000356/5 (ALFA)
G=0.000147/37 (GnomAD_exomes)
G=0.000183/22 (ExAC)
G=0.000461/6 (GoESP)
G=0.000627/166 (TOPMED)
G=0.000756/106 (GnomAD)
G=0.000781/4 (1000Genomes)
HGVS:: NC_000004.12:g.139454330C>G, NC_000004.11:g.140375484C>G, NG_051587.1:g.6099C>G, NM_031296.3:c.135C>G, NM_031296.2:c.135C>G, NM_031296.1:c.135C>G, XM_011532299.2:c.279C>G, XM_011532299.1:c.279C>G

Select item 13854101318.

rs138541013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:139475256 (GRCh38)
4:140396410 (GRCh37)
Canonical SPDI:: NC_000004.12:139475255:G:A
Gene:: RAB33B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000555/8 (ALFA)
A=0.000071/2 (TOMMO)
A=0.000259/1 (ALSPAC)
A=0.0003/42 (GnomAD)
A=0.000348/92 (TOPMED)
A=0.000539/2 (TWINSUK)
A=0.000781/4 (1000Genomes)
HGVS:: NC_000004.12:g.139475256G>A, NC_000004.11:g.140396410G>A, NG_051587.1:g.27025G>A, NM_031296.3:c.*2130G>A, NM_031296.2:c.*2130G>A, NM_031296.1:c.*2130G>A, XM_011532299.2:c.*2130G>A, XM_011532299.1:c.*2130G>A

Select item 13982305119.

rs139823051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:139473113 (GRCh38)
4:140394267 (GRCh37)
Canonical SPDI:: NC_000004.12:139473112:C:T
Gene:: RAB33B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000065/13 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000238/56 (GnomAD_exomes)
T=0.000311/36 (ExAC)
T=0.000991/139 (GnomAD)
T=0.001065/282 (TOPMED)
T=0.001155/15 (GoESP)
T=0.001563/123 (PAGE_STUDY)
T=0.001718/9 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000004.12:g.139473113C>T, NC_000004.11:g.140394267C>T, NG_051587.1:g.24882C>T, NM_031296.3:c.677C>T, NM_031296.2:c.677C>T, NM_031296.1:c.677C>T, XM_011532299.2:c.821C>T, XM_011532299.1:c.821C>T, NP_112586.1:p.Thr226Met, XP_011530601.1:p.Thr274Met

Select item 14038145920.

rs140381459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:139472966 (GRCh38)
4:140394120 (GRCh37)
Canonical SPDI:: NC_000004.12:139472965:C:T
Gene:: RAB33B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003048/621 (ALFA)
T=0.000597/47 (PAGE_STUDY)
T=0.000625/3 (1000Genomes)
T=0.001339/6 (Estonian)
T=0.001467/178 (ExAC)
T=0.001556/391 (GnomAD_exomes)
T=0.001817/481 (TOPMED)
T=0.002098/294 (GnomAD)
T=0.002845/37 (GoESP)
T=0.003236/12 (TWINSUK)
T=0.005189/20 (ALSPAC)
T=0.006012/6 (GoNL)
HGVS:: NC_000004.12:g.139472966C>T, NC_000004.11:g.140394120C>T, NG_051587.1:g.24735C>T, NM_031296.3:c.530C>T, NM_031296.2:c.530C>T, NM_031296.1:c.530C>T, XM_011532299.2:c.674C>T, XM_011532299.1:c.674C>T, NP_112586.1:p.Thr177Met, XP_011530601.1:p.Thr225Met

LitVar

<< First< Prev

Page of 741

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 14811

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity