SYT7 - SNP - NCBI

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Select item 736031.

rs73603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:61587740 (GRCh38)
11:61355212 (GRCh37)
Canonical SPDI:: NC_000011.10:61587739:A:G,NC_000011.10:61587739:A:T
Gene:: SYT7 (Varview), LOC101927495 (Varview), LOC105369331 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.044459/978 (ALFA)
G=0.001203/20 (TOMMO)
G=0.002399/7 (KOREAN)
G=0.00558/10 (Korea1K)
G=0.014019/3 (Vietnamese)
G=0.022654/84 (TWINSUK)
G=0.023612/91 (ALSPAC)
G=0.02433/109 (Estonian)
G=0.026667/16 (NorthernSweden)
G=0.148148/32 (Qatari)
G=0.151608/40129 (TOPMED)
G=0.162399/813 (1000Genomes)
G=0.25719/465 (HapMap)
A=0.344444/31 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61587740A>G, NC_000011.10:g.61587740A>T, NC_000011.9:g.61355212A>G, NC_000011.9:g.61355212A>T, XR_950166.3:n.534T>C, XR_950166.3:n.534T>A, XR_950166.2:n.534T>C, XR_950166.2:n.534T>A, XR_950166.1:n.101T>C, XR_950166.1:n.101T>A, XR_001748243.2:n.534T>C, XR_001748243.2:n.534T>A, XR_001748243.1:n.534T>C, XR_001748243.1:n.534T>A, XR_001748244.2:n.534T>C, XR_001748244.2:n.534T>A, XR_001748244.1:n.534T>C, XR_001748244.1:n.534T>A, XR_007062694.1:n.534T>C, XR_007062694.1:n.534T>A

Select item 829692.

rs82969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61587896 (GRCh38)
11:61355368 (GRCh37)
Canonical SPDI:: NC_000011.10:61587895:A:G
Gene:: SYT7 (Varview), LOC101927495 (Varview), LOC105369331 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.090736/1714 (ALFA)
G=0.001203/20 (TOMMO)
G=0.002407/7 (KOREAN)
G=0.004808/1 (HapMap)
G=0.006557/12 (Korea1K)
G=0.014286/3 (Vietnamese)
G=0.022654/84 (TWINSUK)
G=0.023871/92 (ALSPAC)
G=0.02433/109 (Estonian)
G=0.026667/16 (NorthernSweden)
G=0.148148/32 (Qatari)
G=0.149315/20845 (GnomAD)
G=0.151698/40153 (TOPMED)
G=0.162399/813 (1000Genomes)
A=0.344444/31 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61587896A>G, NC_000011.9:g.61355368A>G, XR_950166.3:n.378T>C, XR_950166.2:n.378T>C, XR_001748243.2:n.378T>C, XR_001748243.1:n.378T>C, XR_001748244.2:n.378T>C, XR_001748244.1:n.378T>C, XR_007062694.1:n.378T>C

Select item 1076073.

rs107607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:61524953 (GRCh38)
11:61292425 (GRCh37)
Canonical SPDI:: NC_000011.10:61524952:A:C
Gene:: SYT7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.61524953A>C, NC_000011.9:g.61292425A>C

Select item 1748694.

rs174869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61584966 (GRCh38)
11:61352438 (GRCh37)
Canonical SPDI:: NC_000011.10:61584965:G:A
Gene:: SYT7 (Varview), LOC105369331 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.039458/816 (ALFA)
A=0.000342/1 (KOREAN)
A=0.000519/2 (ALSPAC)
A=0.000546/1 (Korea1K)
A=0.000809/3 (TWINSUK)
A=0.001002/1 (GoNL)
A=0.075603/10599 (GnomAD)
A=0.078832/20866 (TOPMED)
A=0.083229/417 (1000Genomes)
A=0.092593/20 (Qatari)
G=0.47619/20 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61584966G>A, NC_000011.9:g.61352438G>A

Select item 1987385.

rs198738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61578484 (GRCh38)
11:61345956 (GRCh37)
Canonical SPDI:: NC_000011.10:61578483:A:G
Gene:: SYT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.010069/1339 (ALFA)
G=0./0 (ALSPAC)
G=0.000071/1 (TOMMO)
G=0.00027/1 (TWINSUK)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
G=0.037217/5211 (GnomAD)
G=0.039809/10537 (TOPMED)
G=0.040287/202 (1000Genomes)
G=0.060185/13 (Qatari)
G=0.130332/165 (HapMap)
A=0.464286/13 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61578484A>G, NC_000011.9:g.61345956A>G

Select item 1987476.

rs198747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:61570773 (GRCh38)
11:61338245 (GRCh37)
Canonical SPDI:: NC_000011.10:61570772:G:A,NC_000011.10:61570772:G:C
Gene:: SYT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.07519/7224 (ALFA)
C=0.0057/95 (TOMMO)
C=0.00924/27 (KOREAN)
C=0.01037/19 (Korea1K)
A=0.02927/61 (HGDP_Stanford)
A=0.03482/174 (1000Genomes)
A=0.04133/3253 (PAGE_STUDY)
A=0.04966/72 (HapMap)
A=0.05045/226 (Estonian)
A=0.07667/46 (NorthernSweden)
A=0.07668/48 (Chileans)
A=0.10648/23 (Qatari)
A=0.11022/110 (GoNL)
A=0.11138/413 (TWINSUK)
A=0.11391/439 (ALSPAC)
A=0.125/5 (GENOME_DK)
A=0.2439/20 (PRJEB36033)
G=0.5/15 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000011.10:g.61570773G>A, NC_000011.10:g.61570773G>C, NC_000011.9:g.61338245G>A, NC_000011.9:g.61338245G>C

Select item 1987587.

rs198758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61583494 (GRCh38)
11:61350966 (GRCh37)
Canonical SPDI:: NC_000011.10:61583493:A:G
Gene:: SYT7 (Varview), LOC105369331 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.092432/2223 (ALFA)
G=0.001097/18 (TOMMO)
G=0.002396/7 (KOREAN)
G=0.006004/11 (Korea1K)
G=0.009346/2 (Vietnamese)
G=0.022044/22 (GoNL)
G=0.022114/82 (TWINSUK)
G=0.023871/92 (ALSPAC)
G=0.024107/108 (Estonian)
G=0.026667/16 (NorthernSweden)
G=0.148009/20737 (GnomAD)
G=0.148148/32 (Qatari)
G=0.151086/39991 (TOPMED)
G=0.162555/814 (1000Genomes)
G=0.256921/464 (HapMap)
A=0.337209/29 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61583494A>G, NC_000011.9:g.61350966A>G

Select item 1987598.

rs198759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61584886 (GRCh38)
11:61352358 (GRCh37)
Canonical SPDI:: NC_000011.10:61584885:A:G
Gene:: SYT7 (Varview), LOC105369331 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.097671/1845 (ALFA)
G=0./0 (HapMap)
G=0.001097/18 (TOMMO)
G=0.002396/7 (KOREAN)
G=0.006004/11 (Korea1K)
G=0.009346/2 (Vietnamese)
G=0.022044/22 (GoNL)
G=0.022114/82 (TWINSUK)
G=0.023871/92 (ALSPAC)
G=0.024107/108 (Estonian)
G=0.026667/16 (NorthernSweden)
G=0.162037/35 (Qatari)
G=0.16326/22877 (GnomAD)
G=0.166704/44125 (TOPMED)
G=0.176296/883 (1000Genomes)
A=0.318182/28 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61584886A>G, NC_000011.9:g.61352358A>G

Select item 1987609.

rs198760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61585165 (GRCh38)
11:61352637 (GRCh37)
Canonical SPDI:: NC_000011.10:61585164:T:C
Gene:: SYT7 (Varview), LOC105369331 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.090789/1715 (ALFA)
C=0.001097/18 (TOMMO)
C=0.002396/7 (KOREAN)
C=0.006004/11 (Korea1K)
C=0.009259/2 (Vietnamese)
C=0.022044/22 (GoNL)
C=0.022114/82 (TWINSUK)
C=0.023871/92 (ALSPAC)
C=0.024107/108 (Estonian)
C=0.026667/16 (NorthernSweden)
C=0.148148/32 (Qatari)
C=0.148774/20856 (GnomAD)
C=0.151857/40195 (TOPMED)
C=0.163023/816 (1000Genomes)
C=0.17378/57 (HapMap)
T=0.337209/29 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61585165T>C, NC_000011.9:g.61352637T>C

Select item 19876110.

rs198761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61585305 (GRCh38)
11:61352777 (GRCh37)
Canonical SPDI:: NC_000011.10:61585304:G:A
Gene:: SYT7 (Varview), LOC105369331 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.028427/535 (ALFA)
A=0./0 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
A=0.004792/3 (Chileans)
A=0.03725/5218 (GnomAD)
A=0.039507/198 (1000Genomes)
A=0.039695/10507 (TOPMED)
A=0.055556/12 (Qatari)
A=0.123613/156 (HapMap)
G=0.464286/13 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61585305G>A, NC_000011.9:g.61352777G>A

Select item 19876211.

rs198762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61585517 (GRCh38)
11:61352989 (GRCh37)
Canonical SPDI:: NC_000011.10:61585516:C:T
Gene:: SYT7 (Varview), LOC105369331 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.042857/618 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000259/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
T=0.059175/8290 (GnomAD)
T=0.062998/16675 (TOPMED)
T=0.06371/319 (1000Genomes)
T=0.078704/17 (Qatari)
C=0.470588/16 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61585517C>T, NC_000011.9:g.61352989C>T, XR_950166.3:n.2757G>A, XR_950166.2:n.2757G>A, XR_950166.1:n.2324G>A, XR_001748243.2:n.2757G>A, XR_001748243.1:n.2757G>A, XR_001748244.2:n.2658G>A, XR_001748244.1:n.2658G>A, XR_007062694.1:n.2757G>A

Select item 19876312.

rs198763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61589217 (GRCh38)
11:61356689 (GRCh37)
Canonical SPDI:: NC_000011.10:61589216:T:C
Gene:: SYT7 (Varview), LOC101927495 (Varview), LOC105369331 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000011.10:g.61589217T>C, NC_000011.9:g.61356689T>C

Select item 36560613.

rs365606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:61540607 (GRCh38)
11:61308079 (GRCh37)
Canonical SPDI:: NC_000011.10:61540606:G:T
Gene:: SYT7 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.61540607G>T, NC_000011.9:g.61308079G>T

Select item 36875614.

rs368756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:61555087 (GRCh38)
11:61322559 (GRCh37)
Canonical SPDI:: NC_000011.10:61555086:C:G
Gene:: SYT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000011.10:g.61555087C>G, NC_000011.9:g.61322559C>G

Select item 37775215.

rs377752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:61544752 (GRCh38)
11:61312224 (GRCh37)
Canonical SPDI:: NC_000011.10:61544751:G:C
Gene:: SYT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.61544752G>C, NC_000011.9:g.61312224G>C

Select item 38250516.

rs382505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:61528077 (GRCh38)
11:61295549 (GRCh37)
Canonical SPDI:: NC_000011.10:61528076:C:G,NC_000011.10:61528076:C:T
Gene:: SYT7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (HapMap)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61528077C>G, NC_000011.10:g.61528077C>T, NC_000011.9:g.61295549C>G, NC_000011.9:g.61295549C>T, XM_005274387.5:c.598G>C, XM_005274387.5:c.598G>A, XM_005274387.4:c.598G>C, XM_005274387.4:c.598G>A, XM_005274387.3:c.598G>C, XM_005274387.3:c.598G>A, XM_005274387.2:c.598G>C, XM_005274387.2:c.598G>A, XM_005274387.1:c.598G>C, XM_005274387.1:c.598G>A, XM_005274385.5:c.1084G>C, XM_005274385.5:c.1084G>A, XM_005274385.4:c.1084G>C, XM_005274385.4:c.1084G>A, XM_005274385.3:c.1084G>C, XM_005274385.3:c.1084G>A, XM_005274385.2:c.1084G>C, XM_005274385.2:c.1084G>A, XM_005274385.1:c.1084G>C, XM_005274385.1:c.1084G>A, NM_004200.4:c.460G>C, NM_004200.4:c.460G>A, NM_004200.3:c.460G>C, NM_004200.3:c.460G>A, XM_005274384.3:c.1177G>C, XM_005274384.3:c.1177G>A, XM_005274384.2:c.1177G>C, XM_005274384.2:c.1177G>A, XM_005274384.1:c.1177G>C, XM_005274384.1:c.1177G>A, XM_011545335.3:c.1327G>C, XM_011545335.3:c.1327G>A, XM_011545335.2:c.1327G>C, XM_011545335.2:c.1327G>A, XM_011545335.1:c.1327G>C, XM_011545335.1:c.1327G>A, XM_011545336.3:c.1204G>C, XM_011545336.3:c.1204G>A, XM_011545336.2:c.1204G>C, XM_011545336.2:c.1204G>A, XM_011545336.1:c.1204G>C, XM_011545336.1:c.1204G>A, XM_011545337.3:c.1195G>C, XM_011545337.3:c.1195G>A, XM_011545337.2:c.1195G>C, XM_011545337.2:c.1195G>A, XM_011545337.1:c.1195G>C, XM_011545337.1:c.1195G>A, XM_011545338.3:c.1102G>C, XM_011545338.3:c.1102G>A, XM_011545338.2:c.1102G>C, XM_011545338.2:c.1102G>A, XM_011545338.1:c.1102G>C, XM_011545338.1:c.1102G>A, XM_011545339.3:c.835G>C, XM_011545339.3:c.835G>A, XM_011545339.2:c.835G>C, XM_011545339.2:c.835G>A, XM_011545339.1:c.835G>C, XM_011545339.1:c.835G>A, XM_011545340.3:c.703G>C, XM_011545340.3:c.703G>A, XM_011545340.2:c.703G>C, XM_011545340.2:c.703G>A, XM_011545340.1:c.703G>C, XM_011545340.1:c.703G>A, XM_011545341.3:c.610G>C, XM_011545341.3:c.610G>A, XM_011545341.2:c.610G>C, XM_011545341.2:c.610G>A, XM_011545341.1:c.610G>C, XM_011545341.1:c.610G>A, XM_011545343.3:c.478G>C, XM_011545343.3:c.478G>A, XM_011545343.2:c.478G>C, XM_011545343.2:c.478G>A, XM_011545343.1:c.478G>C, XM_011545343.1:c.478G>A, NM_001365809.2:c.1309G>C, NM_001365809.2:c.1309G>A, NM_001365809.1:c.1309G>C, NM_001365809.1:c.1309G>A, NM_001252065.2:c.685G>C, NM_001252065.2:c.685G>A, NM_001252065.1:c.685G>C, NM_001252065.1:c.685G>A, NM_001300773.2:c.592G>C, NM_001300773.2:c.592G>A, NM_001300773.1:c.592G>C, NM_001300773.1:c.592G>A, XM_047427855.1:c.817G>C, XM_047427855.1:c.817G>A, NM_001411007.1:c.817G>C, NM_001411007.1:c.817G>A, NM_001370210.1:c.748G>C, NM_001370210.1:c.748G>A, NM_001370211.1:c.460G>C, NM_001370211.1:c.460G>A, XP_005274444.1:p.Val200Leu, XP_005274444.1:p.Val200Met, XP_005274442.1:p.Val362Leu, XP_005274442.1:p.Val362Met, NP_004191.2:p.Val154Leu, NP_004191.2:p.Val154Met, XP_005274441.1:p.Val393Leu, XP_005274441.1:p.Val393Met, XP_011543637.1:p.Val443Leu, XP_011543637.1:p.Val443Met, XP_011543638.1:p.Val402Leu, XP_011543638.1:p.Val402Met, XP_011543639.1:p.Val399Leu, XP_011543639.1:p.Val399Met, XP_011543640.1:p.Val368Leu, XP_011543640.1:p.Val368Met, XP_011543641.1:p.Val279Leu, XP_011543641.1:p.Val279Met, XP_011543642.1:p.Val235Leu, XP_011543642.1:p.Val235Met, XP_011543643.1:p.Val204Leu, XP_011543643.1:p.Val204Met, XP_011543645.1:p.Val160Leu, XP_011543645.1:p.Val160Met, NP_001352738.1:p.Val437Leu, NP_001352738.1:p.Val437Met, NP_001238994.1:p.Val229Leu, NP_001238994.1:p.Val229Met, NP_001287702.1:p.Val198Leu, NP_001287702.1:p.Val198Met, XP_047283811.1:p.Val273Leu, XP_047283811.1:p.Val273Met, NP_001357139.1:p.Val250Leu, NP_001357139.1:p.Val250Met, NP_001357140.1:p.Val154Leu, NP_001357140.1:p.Val154Met

Select item 39215917.

rs392159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:61522049 (GRCh38)
11:61289521 (GRCh37)
Canonical SPDI:: NC_000011.10:61522048:C:G,NC_000011.10:61522048:C:T
Gene:: SYT7 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (HapMap)
G=0.000029/4 (GnomAD)
G=0.000042/11 (TOPMED)
G=0.000259/1 (ALSPAC)
G=0.00027/1 (TWINSUK)
HGVS:: NC_000011.10:g.61522049C>G, NC_000011.10:g.61522049C>T, NC_000011.9:g.61289521C>G, NC_000011.9:g.61289521C>T

Select item 40578218.

rs405782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61548976 (GRCh38)
11:61316448 (GRCh37)
Canonical SPDI:: NC_000011.10:61548975:G:A
Gene:: SYT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.61548976G>A, NC_000011.9:g.61316448G>A

Select item 40702619.

rs407026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61540615 (GRCh38)
11:61308087 (GRCh37)
Canonical SPDI:: NC_000011.10:61540614:A:G
Gene:: SYT7 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.61540615A>G, NC_000011.9:g.61308087A>G

Select item 40705120.

rs407051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61540585 (GRCh38)
11:61308057 (GRCh37)
Canonical SPDI:: NC_000011.10:61540584:A:G
Gene:: SYT7 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0./0 (HapMap)
HGVS:: NC_000011.10:g.61540585A>G, NC_000011.9:g.61308057A>G

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