SH2D5 - SNP

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Select item 5310441.

rs531044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:20730518 (GRCh38)
1:21057011 (GRCh37)
Canonical SPDI:: NC_000001.11:20730517:T:A,NC_000001.11:20730517:T:C,NC_000001.11:20730517:T:G
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.327475/6186 (ALFA)
G=0./0 (KOREAN)
T=0.056604/12 (Vietnamese)
T=0.180657/3028 (TOMMO)
T=0.208333/105 (SGDP_PRJ)
T=0.22/11 (Siberian)
T=0.263616/1181 (Estonian)
T=0.311056/1558 (1000Genomes)
T=0.320928/1190 (TWINSUK)
T=0.323333/194 (NorthernSweden)
T=0.32622/107 (HapMap)
T=0.335755/1294 (ALSPAC)
T=0.342685/342 (GoNL)
T=0.351701/49243 (GnomAD)
T=0.355737/94160 (TOPMED)
T=0.412037/89 (Qatari)
HGVS:: NC_000001.11:g.20730518T>A, NC_000001.11:g.20730518T>C, NC_000001.11:g.20730518T>G, NC_000001.10:g.21057011T>A, NC_000001.10:g.21057011T>C, NC_000001.10:g.21057011T>G

Select item 5920602.

rs592060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:20724465 (GRCh38)
1:21050958 (GRCh37)
Canonical SPDI:: NC_000001.11:20724464:C:G,NC_000001.11:20724464:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.230026/36720 (ALFA)
C=0.006831/20 (KOREAN)
C=0.008734/16 (Korea1K)
C=0.016287/10 (Vietnamese)
C=0.019711/330 (TOMMO)
C=0.105047/179 (HapMap)
C=0.113208/60 (SGDP_PRJ)
C=0.118207/592 (1000Genomes)
C=0.168083/44490 (TOPMED)
C=0.17431/24433 (GnomAD)
C=0.17974/2186 (GoESP)
C=0.194648/23102 (ExAC)
C=0.196875/882 (Estonian)
C=0.200697/49463 (GnomAD_exomes)
C=0.211538/11 (Siberian)
C=0.215232/65 (FINRISK)
C=0.223333/134 (NorthernSweden)
C=0.225/9 (GENOME_DK)
C=0.236111/51 (Qatari)
C=0.236246/876 (TWINSUK)
C=0.237935/917 (ALSPAC)
C=0.254509/254 (GoNL)
T=0.430712/230 (MGP)
HGVS:: NC_000001.11:g.20724465C>G, NC_000001.11:g.20724465C>T, NC_000001.10:g.21050958C>G, NC_000001.10:g.21050958C>T, XM_011541461.3:c.561G>C, XM_011541461.3:c.561G>A, XM_011541461.2:c.561G>C, XM_011541461.2:c.561G>A, XM_011541461.1:c.561G>C, XM_011541461.1:c.561G>A, XM_011541462.2:c.561G>C, XM_011541462.2:c.561G>A, XM_011541462.1:c.561G>C, XM_011541462.1:c.561G>A, XM_011541460.2:c.561G>C, XM_011541460.2:c.561G>A, XM_011541460.1:c.561G>C, XM_011541460.1:c.561G>A, NM_001103161.2:c.561G>C, NM_001103161.2:c.561G>A, NM_001103161.1:c.561G>C, NM_001103161.1:c.561G>A, NM_001103160.2:c.309G>C, NM_001103160.2:c.309G>A, NM_001103160.1:c.309G>C, NM_001103160.1:c.309G>A, XP_011539763.1:p.Gln187His, XP_011539764.1:p.Gln187His, XP_011539762.1:p.Gln187His, NP_001096631.1:p.Gln187His, NP_001096630.1:p.Gln103His

Select item 6098803.

rs609880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:20729398 (GRCh38)
1:21055891 (GRCh37)
Canonical SPDI:: NC_000001.11:20729397:A:G,NC_000001.11:20729397:A:T
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.409048/3454 (ALFA)
A=0.066038/14 (Vietnamese)
A=0.100341/294 (KOREAN)
A=0.180728/3029 (TOMMO)
A=0.208333/105 (SGDP_PRJ)
A=0.229167/11 (Siberian)
A=0.26317/1179 (Estonian)
A=0.311056/1558 (1000Genomes)
A=0.322276/1195 (TWINSUK)
A=0.323333/194 (NorthernSweden)
A=0.325/13 (GENOME_DK)
A=0.335755/1294 (ALSPAC)
A=0.343687/343 (GoNL)
A=0.3565/94362 (TOPMED)
A=0.412037/89 (Qatari)
HGVS:: NC_000001.11:g.20729398A>G, NC_000001.11:g.20729398A>T, NC_000001.10:g.21055891A>G, NC_000001.10:g.21055891A>T

Select item 6379904.

rs637990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20721123 (GRCh38)
1:21047616 (GRCh37)
Canonical SPDI:: NC_000001.11:20721122:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.406807/59712 (ALFA)
A=0.064815/14 (Vietnamese)
A=0.084016/246 (KOREAN)
A=0.109456/1834 (TOMMO)
A=0.206568/390 (HapMap)
A=0.226109/1132 (1000Genomes)
A=0.277955/174 (Chileans)
A=0.306955/81248 (TOPMED)
A=0.330535/46265 (GnomAD)
A=0.37037/80 (Qatari)
G=0.391753/76 (SGDP_PRJ)
A=0.405812/405 (GoNL)
A=0.406591/1567 (ALSPAC)
G=0.428571/12 (Siberian)
A=0.438781/1627 (TWINSUK)
A=0.45/18 (GENOME_DK)
A=0.46/276 (NorthernSweden)
G=0.491964/2204 (Estonian)
HGVS:: NC_000001.11:g.20721123G>A, NC_000001.10:g.21047616G>A, XM_011541461.3:c.*669C>T, XM_011541461.2:c.*669C>T, XM_011541461.1:c.*669C>T, XM_011541462.2:c.*669C>T, XM_011541462.1:c.*669C>T, XM_011541460.2:c.*669C>T, XM_011541460.1:c.*669C>T, NM_001103161.2:c.*669C>T, NM_001103161.1:c.*669C>T, NM_001103160.2:c.*669C>T, NM_001103160.1:c.*669C>T

Select item 6467865.

rs646786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:20728233 (GRCh38)
1:21054726 (GRCh37)
Canonical SPDI:: NC_000001.11:20728232:A:C,NC_000001.11:20728232:A:G,NC_000001.11:20728232:A:T
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.324922/21439 (ALFA)
T=0./0 (KOREAN)
G=0.003745/2 (MGP)
A=0.065421/14 (Vietnamese)
A=0.180338/3022 (TOMMO)
A=0.196429/99 (SGDP_PRJ)
A=0.22/11 (Siberian)
A=0.260491/1167 (Estonian)
A=0.280952/531 (HapMap)
A=0.305434/1530 (1000Genomes)
A=0.306622/639 (HGDP_Stanford)
A=0.313107/1161 (TWINSUK)
A=0.318333/191 (NorthernSweden)
A=0.325/13 (GENOME_DK)
A=0.326155/1257 (ALSPAC)
A=0.336673/336 (GoNL)
A=0.345657/48430 (GnomAD)
A=0.348419/92223 (TOPMED)
A=0.412037/89 (Qatari)
A=0.425/34 (PRJEB36033)
HGVS:: NC_000001.11:g.20728233A>C, NC_000001.11:g.20728233A>G, NC_000001.11:g.20728233A>T, NC_000001.10:g.21054726A>C, NC_000001.10:g.21054726A>G, NC_000001.10:g.21054726A>T

Select item 6590466.

rs659046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20721232 (GRCh38)
1:21047725 (GRCh37)
Canonical SPDI:: NC_000001.11:20721231:A:G
Gene:: SH2D5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.32781/56900 (ALFA)
A=0.072917/56 (PRJEB37584)
A=0.1/293 (KOREAN)
A=0.180409/3024 (TOMMO)
A=0.198819/101 (SGDP_PRJ)
A=0.22/11 (Siberian)
A=0.246023/464 (HapMap)
A=0.263393/1180 (Estonian)
A=0.268738/1346 (1000Genomes)
A=0.298783/23513 (PAGE_STUDY)
A=0.3/12 (GENOME_DK)
A=0.31041/1151 (TWINSUK)
A=0.314421/43885 (GnomAD)
A=0.316113/83672 (TOPMED)
A=0.323333/194 (NorthernSweden)
A=0.324079/1249 (ALSPAC)
A=0.338677/338 (GoNL)
A=0.384259/83 (Qatari)
HGVS:: NC_000001.11:g.20721232A>G, NC_000001.10:g.21047725A>G, XM_011541461.3:c.*560T>C, XM_011541461.2:c.*560T>C, XM_011541461.1:c.*560T>C, XM_011541462.2:c.*560T>C, XM_011541462.1:c.*560T>C, XM_011541460.2:c.*560T>C, XM_011541460.1:c.*560T>C, NM_001103161.2:c.*560T>C, NM_001103161.1:c.*560T>C, NM_001103160.2:c.*560T>C, NM_001103160.1:c.*560T>C

Select item 6670717.

rs667071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20719233 (GRCh38)
1:21045726 (GRCh37)
Canonical SPDI:: NC_000001.11:20719232:T:C
Gene:: KIF17 (Varview), SH2D5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.378454/7149 (ALFA)
C=0.03271/7 (Vietnamese)
C=0.055099/161 (KOREAN)
C=0.057314/105 (Korea1K)
C=0.078031/1308 (TOMMO)
C=0.203623/1020 (1000Genomes)
C=0.284522/75310 (TOPMED)
C=0.309836/43320 (GnomAD)
C=0.361111/78 (Qatari)
C=0.39699/1530 (ALSPAC)
C=0.397796/397 (GoNL)
T=0.401235/65 (SGDP_PRJ)
T=0.428571/12 (Siberian)
C=0.428803/1590 (TWINSUK)
C=0.45/18 (GENOME_DK)
C=0.46/276 (NorthernSweden)
T=0.49442/2215 (Estonian)
HGVS:: NC_000001.11:g.20719233T>C, NC_000001.10:g.21045726T>C

Select item 6719058.

rs671905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:20720599 (GRCh38)
1:21047092 (GRCh37)
Canonical SPDI:: NC_000001.11:20720598:A:G,NC_000001.11:20720598:A:T
Gene:: SH2D5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.295847/5272 (ALFA)
A=0.060748/13 (Vietnamese)
A=0.100341/294 (KOREAN)
A=0.180338/3022 (TOMMO)
A=0.183071/93 (SGDP_PRJ)
A=0.210526/64 (HapMap)
A=0.22/11 (Siberian)
A=0.243129/1218 (1000Genomes)
A=0.259821/1164 (Estonian)
A=0.290884/40782 (GnomAD)
A=0.291016/77029 (TOPMED)
A=0.3/12 (GENOME_DK)
A=0.31041/1151 (TWINSUK)
A=0.323333/194 (NorthernSweden)
A=0.324338/1250 (ALSPAC)
A=0.338677/338 (GoNL)
A=0.37963/82 (Qatari)
HGVS:: NC_000001.11:g.20720599A>G, NC_000001.11:g.20720599A>T, NC_000001.10:g.21047092A>G, NC_000001.10:g.21047092A>T, XM_011541461.3:c.*1193T>C, XM_011541461.3:c.*1193T>A, XM_011541461.2:c.*1193T>C, XM_011541461.2:c.*1193T>A, XM_011541461.1:c.*1193T>C, XM_011541461.1:c.*1193T>A, XM_011541462.2:c.*1193T>C, XM_011541462.2:c.*1193T>A, XM_011541462.1:c.*1193T>C, XM_011541462.1:c.*1193T>A, XM_011541460.2:c.*1193T>C, XM_011541460.2:c.*1193T>A, XM_011541460.1:c.*1193T>C, XM_011541460.1:c.*1193T>A, NM_001103161.2:c.*1193T>C, NM_001103161.2:c.*1193T>A, NM_001103161.1:c.*1193T>C, NM_001103161.1:c.*1193T>A, NM_001103160.2:c.*1193T>C, NM_001103160.2:c.*1193T>A, NM_001103160.1:c.*1193T>C, NM_001103160.1:c.*1193T>A

Select item 6881829.

rs688182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:20731614 (GRCh38)
1:21058107 (GRCh37)
Canonical SPDI:: NC_000001.11:20731613:G:C,NC_000001.11:20731613:G:T
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00421/77 (ALFA)
T=0.00137/4 (KOREAN)
T=0.01333/8 (NorthernSweden)
T=0.01585/71 (Estonian)
T=0.01657/83 (1000Genomes)
T=0.02647/102 (ALSPAC)
T=0.03074/114 (TWINSUK)
T=0.05/2 (GENOME_DK)
G=0.5/2 (Siberian)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000001.11:g.20731614G>C, NC_000001.11:g.20731614G>T, NC_000001.10:g.21058107G>C, NC_000001.10:g.21058107G>T, XM_011541462.2:c.-911C>G, XM_011541462.2:c.-911C>A, XM_011541462.1:c.-911C>G, XM_011541462.1:c.-911C>A, XM_011541460.2:c.-751C>G, XM_011541460.2:c.-751C>A, XM_011541460.1:c.-751C>G, XM_011541460.1:c.-751C>A

Select item 73358110.

rs733581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20728295 (GRCh38)
1:21054788 (GRCh37)
Canonical SPDI:: NC_000001.11:20728294:A:G
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0704/1613 (ALFA)
G=0.002455/11 (Estonian)
G=0.008016/8 (GoNL)
G=0.010638/41 (ALSPAC)
G=0.010787/40 (TWINSUK)
G=0.028037/6 (Vietnamese)
G=0.029352/86 (KOREAN)
G=0.030568/56 (Korea1K)
G=0.031319/525 (TOMMO)
G=0.055556/12 (Qatari)
G=0.095396/13366 (GnomAD)
G=0.101413/26843 (TOPMED)
G=0.108682/544 (1000Genomes)
G=0.148592/11693 (PAGE_STUDY)
G=0.166084/285 (HapMap)
A=0.470588/32 (SGDP_PRJ)
HGVS:: NC_000001.11:g.20728295A>G, NC_000001.10:g.21054788A>G

Select item 73358211.

rs733582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:20728399 (GRCh38)
1:21054892 (GRCh37)
Canonical SPDI:: NC_000001.11:20728398:C:A,NC_000001.11:20728398:C:G
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00014/2 (ALFA)
G=0.00859/43 (1000Genomes)
G=0.00926/2 (Qatari)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.20728399C>A, NC_000001.11:g.20728399C>G, NC_000001.10:g.21054892C>A, NC_000001.10:g.21054892C>G

Select item 73556912.

rs735569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:20730626 (GRCh38)
1:21057119 (GRCh37)
Canonical SPDI:: NC_000001.11:20730625:C:G
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001664/24 (ALFA)
G=0.0013/182 (GnomAD)
G=0.00203/10 (1000Genomes)
G=0.003079/815 (TOPMED)
C=0.4/4 (SGDP_PRJ)
HGVS:: NC_000001.11:g.20730626C>G, NC_000001.10:g.21057119C>G

Select item 74449513.

rs744495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20731173 (GRCh38)
1:21057666 (GRCh37)
Canonical SPDI:: NC_000001.11:20731172:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.20731173G>A, NC_000001.10:g.21057666G>A, XM_011541462.2:c.-470C>T, XM_011541462.1:c.-470C>T, XM_011541460.2:c.-310C>T, XM_011541460.1:c.-310C>T

Select item 90003714.

rs900037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:20731295 (GRCh38)
1:21057788 (GRCh37)
Canonical SPDI:: NC_000001.11:20731294:C:G,NC_000001.11:20731294:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.127263/2404 (ALFA)
T=0.097545/437 (Estonian)
T=0.106481/23 (Qatari)
T=0.108333/65 (NorthernSweden)
T=0.125/5 (GENOME_DK)
T=0.128143/17959 (GnomAD)
T=0.131263/131 (GoNL)
T=0.13808/512 (TWINSUK)
T=0.142449/549 (ALSPAC)
T=0.149182/39487 (TOPMED)
C=0.182243/39 (Vietnamese)
T=0.271237/1358 (1000Genomes)
C=0.319149/90 (SGDP_PRJ)
C=0.321843/943 (KOREAN)
C=0.328603/602 (Korea1K)
C=0.375/9 (Siberian)
C=0.446033/7476 (TOMMO)
HGVS:: NC_000001.11:g.20731295C>G, NC_000001.11:g.20731295C>T, NC_000001.10:g.21057788C>G, NC_000001.10:g.21057788C>T, XM_011541462.2:c.-592G>C, XM_011541462.2:c.-592G>A, XM_011541462.1:c.-592G>C, XM_011541462.1:c.-592G>A, XM_011541460.2:c.-432G>C, XM_011541460.2:c.-432G>A, XM_011541460.1:c.-432G>C, XM_011541460.1:c.-432G>A

Select item 90003815.

rs900038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:20731059 (GRCh38)
1:21057552 (GRCh37)
Canonical SPDI:: NC_000001.11:20731058:C:A
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.123293/2329 (ALFA)
A=0.093333/56 (NorthernSweden)
A=0.096652/433 (Estonian)
A=0.1/4 (GENOME_DK)
A=0.106481/23 (Qatari)
A=0.122388/17162 (GnomAD)
A=0.127255/127 (GoNL)
A=0.134304/498 (TWINSUK)
A=0.138817/535 (ALSPAC)
A=0.143519/37988 (TOPMED)
C=0.17619/37 (Vietnamese)
A=0.267021/1337 (1000Genomes)
A=0.302885/63 (HapMap)
C=0.316041/926 (KOREAN)
C=0.321429/90 (SGDP_PRJ)
C=0.326965/599 (Korea1K)
C=0.375/9 (Siberian)
C=0.444617/7452 (TOMMO)
HGVS:: NC_000001.11:g.20731059C>A, NC_000001.10:g.21057552C>A, XM_011541462.2:c.-356G>T, XM_011541462.1:c.-356G>T, XM_011541460.2:c.-196G>T, XM_011541460.1:c.-196G>T

Select item 95180516.

rs951805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20733863 (GRCh38)
1:21060356 (GRCh37)
Canonical SPDI:: NC_000001.11:20733862:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.378958/59235 (ALFA)
A=0.028037/6 (Vietnamese)
A=0.049624/145 (KOREAN)
A=0.074386/1247 (TOMMO)
A=0.231501/438 (HapMap)
A=0.24188/1211 (1000Genomes)
A=0.266773/167 (Chileans)
A=0.315222/83436 (TOPMED)
A=0.337064/47197 (GnomAD)
A=0.35/14 (GENOME_DK)
A=0.365594/1409 (ALSPAC)
A=0.372745/372 (GoNL)
A=0.393519/85 (Qatari)
A=0.402373/1492 (TWINSUK)
G=0.409091/72 (SGDP_PRJ)
A=0.42/252 (NorthernSweden)
G=0.461538/12 (Siberian)
A=0.47619/40 (PRJEB36033)
A=0.478125/2142 (Estonian)
HGVS:: NC_000001.11:g.20733863G>A, NC_000001.10:g.21060356G>A

Select item 95180617.

rs951806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:20734167 (GRCh38)
1:21060660 (GRCh37)
Canonical SPDI:: NC_000001.11:20734166:A:T
Gene:: SH2D5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0./0 (HapMap)
HGVS:: NC_000001.11:g.20734167A>T, NC_000001.10:g.21060660A>T

Select item 198628918.

rs1986289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:20734553 (GRCh38)
1:21061046 (GRCh37)
Canonical SPDI:: NC_000001.11:20734552:C:A,NC_000001.11:20734552:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001681/23 (ALFA)
T=0.000259/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.040617/10751 (TOPMED)
T=0.043098/216 (1000Genomes)
C=0.416667/5 (SGDP_PRJ)
HGVS:: NC_000001.11:g.20734553C>A, NC_000001.11:g.20734553C>T, NC_000001.10:g.21061046C>A, NC_000001.10:g.21061046C>T

Select item 232039819.

rs2320398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:20728213 (GRCh38)
1:21054706 (GRCh37)
Canonical SPDI:: NC_000001.11:20728212:G:A,NC_000001.11:20728212:G:C
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002507/48 (ALFA)
A=0.000223/1 (Estonian)
A=0.000259/1 (ALSPAC)
A=0.000809/3 (TWINSUK)
A=0.021565/5708 (TOPMED)
A=0.022954/115 (1000Genomes)
A=0.027778/6 (Qatari)
A=0.031042/2440 (PAGE_STUDY)
G=0.5/6 (SGDP_PRJ)
HGVS:: NC_000001.11:g.20728213G>A, NC_000001.11:g.20728213G>C, NC_000001.10:g.21054706G>A, NC_000001.10:g.21054706G>C

Select item 373814420.

rs3738144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20720911 (GRCh38)
1:21047404 (GRCh37)
Canonical SPDI:: NC_000001.11:20720910:A:G
Gene:: SH2D5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.081669/11615 (ALFA)
G=0.060748/13 (Vietnamese)
G=0.064815/14 (Qatari)
G=0.06877/255 (TWINSUK)
G=0.073146/73 (GoNL)
G=0.074987/289 (ALSPAC)
G=0.085/51 (NorthernSweden)
G=0.085491/383 (Estonian)
G=0.1/4 (GENOME_DK)
G=0.100639/63 (Chileans)
G=0.132096/242 (Korea1K)
G=0.139288/407 (KOREAN)
G=0.145153/20344 (GnomAD)
G=0.148551/39320 (TOPMED)
G=0.163741/2744 (TOMMO)
G=0.165209/827 (1000Genomes)
G=0.21238/398 (HapMap)
A=0.455882/62 (SGDP_PRJ)
A=0.5/5 (Siberian)
HGVS:: NC_000001.11:g.20720911A>G, NC_000001.10:g.21047404A>G, XM_011541461.3:c.*881T>C, XM_011541461.2:c.*881T>C, XM_011541461.1:c.*881T>C, XM_011541462.2:c.*881T>C, XM_011541462.1:c.*881T>C, XM_011541460.2:c.*881T>C, XM_011541460.1:c.*881T>C, NM_001103161.2:c.*881T>C, NM_001103161.1:c.*881T>C, NM_001103160.2:c.*881T>C, NM_001103160.1:c.*881T>C

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