SNP Links for PMC (Select 2791220) - SNP

Links from PMC

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Select item 122120921.

rs12212092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30160665 (GRCh38)
6:30128442 (GRCh37)
Canonical SPDI:: NC_000006.12:30160664:C:T
Gene:: TRIM10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.073651/21523 (ALFA)
T=0.000035/1 (TOMMO)
T=0.008904/26 (KOREAN)
T=0.026515/21 (PRJEB37584)
T=0.061607/276 (Estonian)
T=0.0625/19 (FINRISK)
T=0.065646/253 (ALSPAC)
T=0.066275/16667 (GnomAD_exomes)
T=0.066882/248 (TWINSUK)
T=0.068136/68 (GoNL)
T=0.068333/41 (NorthernSweden)
T=0.070034/8503 (ExAC)
T=0.075/3 (GENOME_DK)
T=0.077465/88 (Daghestan)
T=0.09366/195 (HGDP_Stanford)
T=0.095721/479 (1000Genomes)
T=0.108059/177 (HapMap)
T=0.111025/15559 (GnomAD)
T=0.113045/29922 (TOPMED)
T=0.114232/61 (MGP)
T=0.116792/1519 (GoESP)
T=0.128046/10077 (PAGE_STUDY)
T=0.157895/12 (PRJEB36033)
T=0.226852/49 (Qatari)
C=0.4625/37 (SGDP_PRJ)
C=0.5/5 (Siberian)
HGVS:: NC_000006.12:g.30160665C>T, NC_000006.11:g.30128442C>T, NT_113891.3:g.1640471C>T, NT_113891.2:g.1640577C>T, NT_167248.2:g.1415793C>T, NT_167248.1:g.1421389C>T, NT_167245.2:g.1416581C>T, NT_167245.1:g.1422166C>T, NT_167249.2:g.1459592C>T, NT_167249.1:g.1458890C>T, NT_167246.2:g.1471386C>T, NT_167246.1:g.1477006C>T, NT_167247.2:g.1504742C>T, NT_167247.1:g.1510327C>T, NT_167244.2:g.1418760C>T, NT_167244.1:g.1368676C>T, NM_006778.4:c.194G>A, NM_006778.3:c.194G>A, XM_011514222.3:c.248G>A, XM_011514222.2:c.248G>A, XM_011514222.1:c.248G>A, XM_011514223.3:c.248G>A, XM_011514223.2:c.248G>A, XM_011514223.1:c.248G>A, NM_052828.3:c.194G>A, NM_052828.2:c.194G>A, XM_047418052.1:c.248G>A, XM_011514221.2:c.248G>A, XM_011514221.1:c.248G>A, XM_047418053.1:c.248G>A, XM_047418051.1:c.248G>A, NP_006769.2:p.Arg65His, XP_011512524.1:p.Arg83His, XP_011512525.1:p.Arg83His, NP_439893.2:p.Arg65His, XP_047274008.1:p.Arg83His, XP_011512523.1:p.Arg83His, XP_047274009.1:p.Arg83His, XP_047274007.1:p.Arg83His

PubMed

Select item 109000292.

rs10900029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:44366772 (GRCh38)
10:44862220 (GRCh37)
Canonical SPDI:: NC_000010.11:44366771:G:A,NC_000010.11:44366771:G:C,NC_000010.11:44366771:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.15/6 (GENOME_DK)
A=0.175/105 (NorthernSweden)
A=0.186819/49449 (TOPMED)
A=0.195254/724 (TWINSUK)
A=0.203944/786 (ALSPAC)
A=0.211037/16498 (PAGE_STUDY)
A=0.213427/213 (GoNL)
A=0.227009/1017 (Estonian)
A=0.240631/1205 (1000Genomes)
A=0.247886/469 (HapMap)
A=0.263889/57 (Qatari)
A=0.266314/302 (Daghestan)
A=0.277351/578 (HGDP_Stanford)
A=0.342857/24 (PRJEB36033)
A=0.349873/275 (PRJEB37584)
A=0.382253/1120 (KOREAN)
G=0.399225/103 (SGDP_PRJ)
G=0.40625/13 (Siberian)
A=0.444299/7446 (TOMMO)
G=0.490566/104 (Vietnamese)
HGVS:: NC_000010.11:g.44366772G>A, NC_000010.11:g.44366772G>C, NC_000010.11:g.44366772G>T, NC_000010.10:g.44862220G>A, NC_000010.10:g.44862220G>C, NC_000010.10:g.44862220G>T

PubMed

Select item 108385253.

rs10838525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5679771 (GRCh38)
11:5701001 (GRCh37)
Canonical SPDI:: NC_000011.10:5679770:C:T
Gene:: TRIM5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.339211/116373 (ALFA)
T=0.0373/21 (Vietnamese)
T=0.043668/80 (Korea1K)
T=0.045859/134 (KOREAN)
T=0.050633/40 (PRJEB37584)
T=0.096362/1615 (TOMMO)
T=0.162791/308 (HapMap)
T=0.182512/14363 (PAGE_STUDY)
T=0.182698/915 (1000Genomes)
T=0.18666/389 (HGDP_Stanford)
T=0.226852/49 (Qatari)
T=0.258876/68522 (TOPMED)
T=0.280384/66584 (GnomAD_exomes)
T=0.280471/3645 (GoESP)
T=0.284283/39612 (GnomAD)
T=0.290881/33346 (ExAC)
T=0.299642/335 (Daghestan)
T=0.353399/1362 (ALSPAC)
C=0.363636/8 (Siberian)
T=0.370787/198 (MGP)
T=0.373247/1384 (TWINSUK)
C=0.382979/72 (SGDP_PRJ)
T=0.387226/1734 (Estonian)
T=0.394737/30 (PRJEB36033)
T=0.408818/408 (GoNL)
T=0.415/249 (NorthernSweden)
T=0.447368/136 (FINRISK)
HGVS:: NC_000011.10:g.5679771C>T, NC_000011.9:g.5701001C>T, NG_029122.1:g.10339G>A, NM_033092.4:c.407G>A, NM_033092.3:c.407G>A, NM_033092.2:c.407G>A, NM_033093.4:c.407G>A, NM_033093.3:c.407G>A, NM_033093.2:c.407G>A, NM_033034.3:c.407G>A, NM_033034.2:c.407G>A, NM_001410958.1:c.407G>A, XM_006718358.4:c.407G>A, XM_006718358.3:c.407G>A, XM_006718358.2:c.407G>A, XM_006718358.1:c.407G>A, XM_005253183.4:c.407G>A, XM_005253183.3:c.407G>A, XM_005253183.2:c.407G>A, XM_005253183.1:c.407G>A, XM_005253184.4:c.407G>A, XM_005253184.3:c.407G>A, XM_005253184.2:c.407G>A, XM_005253184.1:c.407G>A, XM_011520426.4:c.407G>A, XM_011520426.3:c.407G>A, XM_011520426.2:c.407G>A, XM_011520426.1:c.407G>A, XR_001748014.3:n.675G>A, XR_001748014.2:n.685G>A, XR_001748014.1:n.696G>A, XM_017018463.3:c.407G>A, XM_017018461.3:c.407G>A, XM_017018461.2:c.407G>A, XM_017018461.1:c.407G>A, XM_017018460.3:c.407G>A, XM_017018460.2:c.407G>A, XM_017018460.1:c.407G>A, XR_007062519.1:n.675G>A, XR_007062518.1:n.527G>A, XR_007062522.1:n.527G>A, XM_047427784.1:c.407G>A, XM_047427783.1:c.407G>A, XR_007062517.1:n.675G>A, XR_007062520.1:n.675G>A, XR_007062521.1:n.527G>A, NP_149083.2:p.Arg136Gln, NP_149084.2:p.Arg136Gln, NP_149023.2:p.Arg136Gln, XP_006718421.1:p.Arg136Gln, XP_005253240.1:p.Arg136Gln, XP_005253241.1:p.Arg136Gln, XP_011518728.1:p.Arg136Gln, XP_016873952.1:p.Arg136Gln, XP_016873950.1:p.Arg136Gln, XP_016873949.1:p.Arg136Gln, XP_047283740.1:p.Arg136Gln, XP_047283739.1:p.Arg136Gln

PubMed LitVar

Select item 94686924.

rs9468692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:30152113 (GRCh38)
6:30119890 (GRCh37)
Canonical SPDI:: NC_000006.12:30152112:G:A,NC_000006.12:30152112:G:C,NC_000006.12:30152112:G:T
Gene:: TRIM10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000053/12 (ALFA)
T=0.064603/288 (Estonian)
A=0.066393/194 (KOREAN)
T=0.069444/55 (PRJEB37584)
T=0.071667/43 (NorthernSweden)
T=0.075/3 (GENOME_DK)
T=0.102993/117 (Daghestan)
T=0.106027/531 (1000Genomes)
T=0.109524/207 (HapMap)
T=0.113741/30106 (TOPMED)
T=0.115754/241 (HGDP_Stanford)
T=0.236111/51 (Qatari)
G=0.459184/45 (SGDP_PRJ)
G=0.5/6 (Siberian)
HGVS:: NC_000006.12:g.30152113G>A, NC_000006.12:g.30152113G>C, NC_000006.12:g.30152113G>T, NC_000006.11:g.30119890G>A, NC_000006.11:g.30119890G>C, NC_000006.11:g.30119890G>T, NT_113891.3:g.1631921G>A, NT_113891.3:g.1631921G>C, NT_113891.3:g.1631921G>T, NT_113891.2:g.1632027G>A, NT_113891.2:g.1632027G>C, NT_113891.2:g.1632027G>T, NT_167248.2:g.1407242G>A, NT_167248.2:g.1407242G>C, NT_167248.2:g.1407242G>T, NT_167248.1:g.1412838G>A, NT_167248.1:g.1412838G>C, NT_167248.1:g.1412838G>T, NT_167245.2:g.1408030G>A, NT_167245.2:g.1408030G>C, NT_167245.2:g.1408030G>T, NT_167245.1:g.1413615G>A, NT_167245.1:g.1413615G>C, NT_167245.1:g.1413615G>T, NT_167249.2:g.1451038G>A, NT_167249.2:g.1451038G>C, NT_167249.2:g.1451038G>T, NT_167249.1:g.1450336G>A, NT_167249.1:g.1450336G>C, NT_167249.1:g.1450336G>T, NT_167246.2:g.1462835G>A, NT_167246.2:g.1462835G>C, NT_167246.2:g.1462835G>T, NT_167246.1:g.1468455G>A, NT_167246.1:g.1468455G>C, NT_167246.1:g.1468455G>T, NT_167247.2:g.1496188G>A, NT_167247.2:g.1496188G>C, NT_167247.2:g.1496188G>T, NT_167247.1:g.1501773G>A, NT_167247.1:g.1501773G>C, NT_167247.1:g.1501773G>T, NT_167244.2:g.1410209G>A, NT_167244.2:g.1410209G>C, NT_167244.2:g.1410209G>T, NT_167244.1:g.1360125G>A, NT_167244.1:g.1360125G>C, NT_167244.1:g.1360125G>T, NM_006778.4:c.*1856C>T, NM_006778.4:c.*1856C>G, NM_006778.4:c.*1856C>A, NM_006778.3:c.*1856C>T, NM_006778.3:c.*1856C>G, NM_006778.3:c.*1856C>A, NM_052828.3:c.*1575C>T, NM_052828.3:c.*1575C>G, NM_052828.3:c.*1575C>A, NM_052828.2:c.*1575C>T, NM_052828.2:c.*1575C>G, NM_052828.2:c.*1575C>A, XM_011514222.3:c.*1856C>T, XM_011514222.3:c.*1856C>G, XM_011514222.3:c.*1856C>A, XM_011514222.2:c.*1856C>T, XM_011514222.2:c.*1856C>G, XM_011514222.2:c.*1856C>A, XM_011514222.1:c.*1856C>T, XM_011514222.1:c.*1856C>G, XM_011514222.1:c.*1856C>A, XM_011514223.3:c.*1856C>T, XM_011514223.3:c.*1856C>G, XM_011514223.3:c.*1856C>A, XM_011514223.2:c.*1856C>T, XM_011514223.2:c.*1856C>G, XM_011514223.2:c.*1856C>A, XM_011514223.1:c.*1856C>T, XM_011514223.1:c.*1856C>G, XM_011514223.1:c.*1856C>A, XM_047418051.1:c.*1856C>T, XM_047418051.1:c.*1856C>G, XM_047418051.1:c.*1856C>A, XM_047418053.1:c.*1575C>T, XM_047418053.1:c.*1575C>G, XM_047418053.1:c.*1575C>A, XM_047418052.1:c.*1856C>T, XM_047418052.1:c.*1856C>G, XM_047418052.1:c.*1856C>A, XM_011514221.2:c.*1856C>T, XM_011514221.2:c.*1856C>G, XM_011514221.2:c.*1856C>A, XM_011514221.1:c.*1856C>T, XM_011514221.1:c.*1856C>G, XM_011514221.1:c.*1856C>A

PubMed LitVar

Select item 92664095.

rs9266409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31368791 (GRCh38)
6:31336568 (GRCh37)
Canonical SPDI:: NC_000006.12:31368790:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.203266/23474 (ALFA)
C=0.15/6 (GENOME_DK)
C=0.173948/645 (TWINSUK)
C=0.176667/106 (NorthernSweden)
C=0.179294/691 (ALSPAC)
C=0.19308/865 (Estonian)
C=0.210421/210 (GoNL)
C=0.212591/29795 (GnomAD)
C=0.217983/57698 (TOPMED)
C=0.25/20 (PRJEB36033)
C=0.261287/544 (HGDP_Stanford)
C=0.277778/315 (Daghestan)
C=0.287037/62 (Qatari)
C=0.290443/1455 (1000Genomes)
C=0.300211/568 (HapMap)
C=0.329352/965 (KOREAN)
C=0.369418/6191 (TOMMO)
T=0.387218/103 (SGDP_PRJ)
C=0.443396/94 (Vietnamese)
T=0.444444/8 (Siberian)
HGVS:: NC_000006.12:g.31368791T>C, NC_000006.11:g.31336568T>C, NT_113891.3:g.2849145T>C, NT_113891.2:g.2849251T>C, NT_167248.2:g.2624482C>T, NT_167248.1:g.2630078C>T, NT_167249.2:g.2671026T>C, NT_167249.1:g.2670324T>C, NT_167246.2:g.2677398T>C, NT_167246.1:g.2683018T>C

PubMed

Select item 92649426.

rs9264942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31306603 (GRCh38)
6:31274380 (GRCh37)
Canonical SPDI:: NC_000006.12:31306602:T:C
Gene:: LOC112267902 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.369047/102792 (ALFA)
C=0.287575/287 (GoNL)
C=0.319749/25163 (PAGE_STUDY)
C=0.322768/1446 (Estonian)
C=0.325/13 (GENOME_DK)
C=0.337098/47187 (GnomAD)
C=0.343942/91038 (TOPMED)
C=0.345991/5799 (TOMMO)
C=0.348706/1293 (TWINSUK)
C=0.353659/1363 (ALSPAC)
C=0.359775/1802 (1000Genomes)
C=0.363333/218 (NorthernSweden)
C=0.37315/706 (HapMap)
C=0.379443/790 (HGDP_Stanford)
T=0.387574/131 (SGDP_PRJ)
T=0.392857/11 (Siberian)
C=0.398148/86 (Qatari)
C=0.443396/94 (Vietnamese)
C=0.447099/1310 (KOREAN)
C=0.455986/518 (Daghestan)
C=0.464467/366 (PRJEB37584)
C=0.475/38 (PRJEB36033)
HGVS:: NC_000006.12:g.31306603T>C, NC_000006.11:g.31274380T>C, NT_113891.3:g.2787510T>C, NT_113891.2:g.2787616T>C, NT_167248.2:g.2562308C>T, NT_167248.1:g.2567904C>T, NT_167245.2:g.2564343C>T, NT_167245.1:g.2569928C>T, NT_167249.2:g.2608834C>T, NT_167249.1:g.2608132C>T, NT_167246.2:g.2615582T>C, NT_167246.1:g.2621202T>C, NT_167247.2:g.2649290T>C, NT_167247.1:g.2654875T>C

PubMed

Select item 92611747.

rs9261174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:30029078 (GRCh38)
6:29996855 (GRCh37)
Canonical SPDI:: NC_000006.12:30029077:T:A,NC_000006.12:30029077:T:C
Gene:: ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.135807/13873 (ALFA)
C=0.081162/81 (GoNL)
C=0.085106/328 (ALSPAC)
C=0.097991/439 (Estonian)
C=0.098975/367 (TWINSUK)
C=0.108333/65 (NorthernSweden)
C=0.121479/138 (Daghestan)
C=0.15/6 (GENOME_DK)
C=0.162037/35 (Qatari)
C=0.17079/23941 (GnomAD)
C=0.181818/8 (PRJEB36033)
C=0.190438/50407 (TOPMED)
C=0.194444/42 (Vietnamese)
C=0.194878/976 (1000Genomes)
C=0.196203/155 (PRJEB37584)
C=0.206052/429 (HGDP_Stanford)
C=0.220276/415 (HapMap)
C=0.292625/4904 (TOMMO)
C=0.304778/893 (KOREAN)
T=0.375/9 (Siberian)
T=0.390805/68 (SGDP_PRJ)
HGVS:: NC_000006.12:g.30029078T>A, NC_000006.12:g.30029078T>C, NC_000006.11:g.29996855T>A, NC_000006.11:g.29996855T>C, NT_113891.3:g.1508483T>A, NT_113891.3:g.1508483T>C, NT_113891.2:g.1508589T>A, NT_113891.2:g.1508589T>C, NT_167248.2:g.1284202C>T, NT_167248.2:g.1284202C>A, NT_167248.1:g.1289798C>T, NT_167248.1:g.1289798C>A, NT_167245.2:g.1284633T>A, NT_167245.2:g.1284633T>C, NT_167245.1:g.1290218T>A, NT_167245.1:g.1290218T>C, NT_167249.2:g.1326903T>A, NT_167249.2:g.1326903T>C, NT_167249.1:g.1326201T>A, NT_167249.1:g.1326201T>C, NT_167246.2:g.1289827T>A, NT_167246.2:g.1289827T>C, NT_167246.1:g.1295447T>A, NT_167246.1:g.1295447T>C, NT_167247.2:g.1373152T>A, NT_167247.2:g.1373152T>C, NT_167247.1:g.1378737T>A, NT_167247.1:g.1378737T>C, NT_167244.2:g.1286807T>A, NT_167244.2:g.1286807T>C, NT_167244.1:g.1236723T>A, NT_167244.1:g.1236723T>C

PubMed

Select item 92611298.

rs9261129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:30011802 (GRCh38)
6:29979579 (GRCh37)
Canonical SPDI:: NC_000006.12:30011801:T:C,NC_000006.12:30011801:T:G
Gene:: ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.134288/19049 (ALFA)
C=0.047619/2 (PRJEB36033)
C=0.081162/81 (GoNL)
C=0.084328/325 (ALSPAC)
C=0.098706/366 (TWINSUK)
C=0.108333/65 (NorthernSweden)
C=0.121908/138 (Daghestan)
C=0.162037/35 (Qatari)
C=0.171302/23935 (GnomAD)
C=0.190744/50488 (TOPMED)
C=0.195191/978 (1000Genomes)
C=0.19697/156 (PRJEB37584)
C=0.212705/442 (HGDP_Stanford)
C=0.21928/414 (HapMap)
C=0.292625/4904 (TOMMO)
C=0.304437/892 (KOREAN)
T=0.375/9 (Siberian)
T=0.391753/76 (SGDP_PRJ)
HGVS:: NC_000006.12:g.30011802T>C, NC_000006.12:g.30011802T>G, NC_000006.11:g.29979579T>C, NC_000006.11:g.29979579T>G, NT_113891.3:g.1491187T>C, NT_113891.3:g.1491187T>G, NT_113891.2:g.1491293T>C, NT_113891.2:g.1491293T>G, NT_167248.2:g.1266886C>T, NT_167248.2:g.1266886C>G, NT_167248.1:g.1272482C>T, NT_167248.1:g.1272482C>G, NT_167245.2:g.1267337T>C, NT_167245.2:g.1267337T>G, NT_167245.1:g.1272922T>C, NT_167245.1:g.1272922T>G, NT_167249.2:g.1309609T>C, NT_167249.2:g.1309609T>G, NT_167249.1:g.1308907T>C, NT_167249.1:g.1308907T>G, NT_167246.2:g.1272533T>C, NT_167246.2:g.1272533T>G, NT_167246.1:g.1278153T>C, NT_167246.1:g.1278153T>G, NT_167247.2:g.1355858T>C, NT_167247.2:g.1355858T>G, NT_167247.1:g.1361443T>C, NT_167247.1:g.1361443T>G, NT_167244.2:g.1269511T>C, NT_167244.2:g.1269511T>G, NT_167244.1:g.1219427T>C, NT_167244.1:g.1219427T>G

PubMed

Select item 81925919.

rs8192591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32218019 (GRCh38)
6:32185796 (GRCh37)
Canonical SPDI:: NC_000006.12:32218018:C:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.032031/8901 (ALFA)
T=0./0 (PRJEB36033)
T=0.000389/7 (TOMMO)
T=0.006667/4 (NorthernSweden)
T=0.007529/22 (KOREAN)
T=0.008488/668 (PAGE_STUDY)
T=0.009259/2 (Qatari)
T=0.01/3 (FINRISK)
T=0.013449/28 (HGDP_Stanford)
T=0.016854/9 (MGP)
T=0.021002/2943 (GnomAD)
T=0.021115/5589 (TOPMED)
T=0.02399/19 (PRJEB37584)
T=0.024803/6220 (GnomAD_exomes)
T=0.025834/336 (GoESP)
T=0.027232/122 (Estonian)
T=0.027332/3180 (ExAC)
T=0.028056/28 (GoNL)
T=0.029513/148 (1000Genomes)
T=0.03425/127 (TWINSUK)
T=0.037364/144 (ALSPAC)
T=0.044037/48 (HapMap)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000006.12:g.32218019C>T, NC_000006.11:g.32185796C>T, NG_028190.1:g.11049G>A, NM_004557.4:c.1600G>A, NM_004557.3:c.1600G>A, NR_134949.2:n.1841G>A, NR_134949.1:n.1841G>A, NR_134950.2:n.1739G>A, NR_134950.1:n.1739G>A, NT_113891.3:g.3656365C>T, NT_113891.2:g.3656471C>T, NT_167249.2:g.3534227C>T, NT_167249.1:g.3533525C>T, NT_167248.2:g.3441221C>T, NT_167248.1:g.3446817C>T, NT_167247.2:g.3560061C>T, NT_167247.1:g.3565646C>T, NT_167246.2:g.3523027C>T, NT_167246.1:g.3528647C>T, NP_004548.3:p.Gly534Ser

PubMed

Select item 817783210.

rs8177832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:39081561 (GRCh38)
22:39477566 (GRCh37)
Canonical SPDI:: NC_000022.11:39081560:A:C,NC_000022.11:39081560:A:G
Gene:: APOBEC3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.045484/13946 (ALFA)
G=0.017411/78 (Estonian)
G=0.02809/15 (MGP)
G=0.031396/121 (ALSPAC)
G=0.032362/120 (TWINSUK)
G=0.033066/33 (GoNL)
G=0.043333/26 (NorthernSweden)
G=0.046053/14 (FINRISK)
G=0.047619/2 (PRJEB36033)
G=0.059436/14941 (GnomAD_exomes)
G=0.063967/7762 (ExAC)
G=0.06743/53 (PRJEB37584)
G=0.067686/124 (Korea1K)
G=0.077217/1294 (TOMMO)
G=0.084933/177 (HGDP_Stanford)
G=0.087963/19 (Qatari)
G=0.102773/63 (Vietnamese)
G=0.118211/74 (Chileans)
G=0.138446/19399 (GnomAD)
G=0.143088/37874 (TOPMED)
G=0.143703/1869 (GoESP)
G=0.155215/777 (1000Genomes)
G=0.17193/294 (HapMap)
G=0.198866/15648 (PAGE_STUDY)
A=0.4/36 (SGDP_PRJ)
A=0.5/5 (Siberian)
HGVS:: NC_000022.11:g.39081561A>C, NC_000022.11:g.39081561A>G, NC_000022.10:g.39477566A>C, NC_000022.10:g.39477566A>G, NM_021822.4:c.557A>C, NM_021822.4:c.557A>G, NM_021822.3:c.557A>C, NM_021822.3:c.557A>G, NM_001349438.3:c.557A>C, NM_001349438.3:c.557A>G, NM_001349438.2:c.557A>C, NM_001349438.2:c.557A>G, NM_001349438.1:c.557A>C, NM_001349438.1:c.557A>G, NR_146179.3:n.490A>C, NR_146179.3:n.490A>G, NR_146179.2:n.490A>C, NR_146179.2:n.490A>G, NR_146179.1:n.760A>C, NR_146179.1:n.760A>G, NM_001349437.2:c.356A>C, NM_001349437.2:c.356A>G, NM_001349437.1:c.356A>C, NM_001349437.1:c.356A>G, NM_001349436.1:c.524A>C, NM_001349436.1:c.524A>G, NP_068594.1:p.His186Pro, NP_068594.1:p.His186Arg, NP_001336367.1:p.His186Pro, NP_001336367.1:p.His186Arg, NP_001336366.1:p.His119Pro, NP_001336366.1:p.His119Arg, NP_001336365.1:p.His175Pro, NP_001336365.1:p.His175Arg

PubMed LitVar

Select item 817782611.

rs8177826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:44796669 (GRCh38)
7:44836268 (GRCh37)
Canonical SPDI:: NC_000007.14:44796668:C:A,NC_000007.14:44796668:C:G
Gene:: PPIA (Varview), LOC105375259 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.020216/356 (ALFA)
G=0.019363/324 (TOMMO)
G=0.020599/11 (MGP)
G=0.02646/77 (KOREAN)
G=0.034375/154 (Estonian)
G=0.035034/2747 (PAGE_STUDY)
G=0.038882/195 (1000Genomes)
G=0.039141/31 (PRJEB37584)
G=0.041667/9 (Vietnamese)
G=0.05/2 (GENOME_DK)
G=0.051252/13566 (TOPMED)
G=0.063333/38 (NorthernSweden)
G=0.067422/250 (TWINSUK)
G=0.076284/294 (ALSPAC)
G=0.115741/25 (Qatari)
C=0.48/24 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000007.14:g.44796669C>A, NC_000007.14:g.44796669C>G, NC_000007.13:g.44836268C>A, NC_000007.13:g.44836268C>G, NG_029697.1:g.5028C>A, NG_029697.1:g.5028C>G, NM_021130.4:c.-56C>A, NM_021130.4:c.-56C>G, NM_021130.3:c.-56C>A, NM_021130.3:c.-56C>G, NM_001300981.1:c.-393C>A, NM_001300981.1:c.-393C>G, NM_203430.1:c.-393C>A, NM_203430.1:c.-393C>G, NM_203431.1:c.-303C>A, NM_203431.1:c.-303C>G

PubMed LitVar

Select item 775851212.

rs7758512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30002812 (GRCh38)
6:29970589 (GRCh37)
Canonical SPDI:: NC_000006.12:30002811:T:G
Gene:: ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.133865/23775 (ALFA)
G=0./0 (PRJEB36033)
G=0.081162/81 (GoNL)
G=0.085625/330 (ALSPAC)
G=0.097991/439 (Estonian)
G=0.099515/369 (TWINSUK)
G=0.108333/65 (NorthernSweden)
G=0.15/6 (GENOME_DK)
G=0.162037/35 (Qatari)
G=0.171139/23979 (GnomAD)
G=0.190906/50531 (TOPMED)
G=0.195347/978 (1000Genomes)
G=0.19697/156 (PRJEB37584)
G=0.200935/43 (Vietnamese)
G=0.212776/443 (HGDP_Stanford)
G=0.220402/417 (HapMap)
G=0.241761/18913 (PAGE_STUDY)
G=0.292554/4903 (TOMMO)
G=0.304778/893 (KOREAN)
T=0.375/9 (Siberian)
T=0.391753/76 (SGDP_PRJ)
HGVS:: NC_000006.12:g.30002812T>G, NC_000006.11:g.29970589T>G, NT_113891.3:g.1482200T>G, NT_113891.2:g.1482306T>G, NT_167248.2:g.1257908G>T, NT_167248.1:g.1263504G>T, NT_167245.2:g.1258350T>G, NT_167245.1:g.1263935T>G, NT_167249.2:g.1300618T>G, NT_167249.1:g.1299916T>G, NT_167246.2:g.1263542T>G, NT_167246.1:g.1269162T>G, NT_167247.2:g.1346868T>G, NT_167247.1:g.1352453T>G, NT_167244.2:g.1260524T>G, NT_167244.1:g.1210440T>G

PubMed LitVar

Select item 503073713.

rs5030737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:52771482 (GRCh38)
10:54531242 (GRCh37)
Canonical SPDI:: NC_000010.11:52771481:G:A,NC_000010.11:52771481:G:T
Gene:: MBL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic,uncertain-significance,risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.065976/20094 (ALFA)
A=0.001263/1 (PRJEB37584)
A=0.021296/1676 (PAGE_STUDY)
A=0.027483/138 (1000Genomes)
A=0.036075/50 (HapMap)
A=0.046299/12255 (TOPMED)
A=0.048333/29 (NorthernSweden)
A=0.049635/6954 (GnomAD)
A=0.052434/28 (MGP)
A=0.055575/13955 (GnomAD_exomes)
A=0.056948/6912 (ExAC)
A=0.057692/6 (PRJEB36033)
A=0.059375/266 (Estonian)
A=0.0625/19 (FINRISK)
A=0.064815/14 (Qatari)
A=0.06904/256 (TWINSUK)
A=0.071354/275 (ALSPAC)
A=0.081866/93 (Daghestan)
A=0.084168/84 (GoNL)
A=0.125/5 (GENOME_DK)
G=0.466667/14 (SGDP_PRJ)
HGVS:: NC_000010.11:g.52771482G>A, NC_000010.11:g.52771482G>T, NC_000010.10:g.54531242G>A, NC_000010.10:g.54531242G>T, NG_008196.1:g.5219C>T, NG_008196.1:g.5219C>A, NM_000242.3:c.154C>T, NM_000242.3:c.154C>A, NM_000242.2:c.154C>T, NM_000242.2:c.154C>A, NM_001378374.1:c.154C>T, NM_001378374.1:c.154C>A, NM_001378373.1:c.154C>T, NM_001378373.1:c.154C>A, NP_000233.1:p.Arg52Cys, NP_000233.1:p.Arg52Ser, NP_001365303.1:p.Arg52Cys, NP_001365303.1:p.Arg52Ser, NP_001365302.1:p.Arg52Cys, NP_001365302.1:p.Arg52Ser

PubMed LitVar

Select item 425173914.

rs4251739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:35821079 (GRCh38)
17:34148083 (GRCh37)
Canonical SPDI:: NC_000017.11:35821078:G:A,NC_000017.11:35821078:G:C
Gene:: TAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.027535/4472 (ALFA)
A=0.01503/15 (GoNL)
A=0.018519/4 (Qatari)
A=0.019643/88 (Estonian)
A=0.02/12 (NorthernSweden)
A=0.023093/89 (ALSPAC)
A=0.023732/88 (TWINSUK)
A=0.052381/11 (Vietnamese)
A=0.052783/110 (HGDP_Stanford)
A=0.054603/7652 (GnomAD)
A=0.055556/2 (PRJEB36033)
A=0.056655/14996 (TOPMED)
A=0.065584/328 (1000Genomes)
A=0.080851/152 (HapMap)
A=0.143004/2397 (TOMMO)
A=0.17099/501 (KOREAN)
G=0.454545/20 (SGDP_PRJ)
G=0.5/5 (Siberian)
HGVS:: NC_000017.11:g.35821079G>A, NC_000017.11:g.35821079G>C, NW_004166864.2:g.113247G>A, NW_004166864.2:g.113247G>C, NG_023279.1:g.16596G>A, NG_023279.1:g.16596G>C, NT_187614.1:g.55611G>A, NT_187614.1:g.55611G>C, NC_000017.10:g.34148083G>A, NC_000017.10:g.34148083G>C

PubMed

Select item 386906815.

rs3869068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30036275 (GRCh38)
6:30004052 (GRCh37)
Canonical SPDI:: NC_000006.12:30036274:C:T
Gene:: ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.135344/36603 (ALFA)
T=0.081162/81 (GoNL)
T=0.085366/329 (ALSPAC)
T=0.097768/438 (Estonian)
T=0.099515/369 (TWINSUK)
T=0.108333/65 (NorthernSweden)
T=0.12/6 (PRJEB36033)
T=0.121693/138 (Daghestan)
T=0.15/6 (GENOME_DK)
T=0.162037/35 (Qatari)
T=0.170989/23944 (GnomAD)
T=0.172897/37 (Vietnamese)
T=0.190793/50501 (TOPMED)
T=0.195191/978 (1000Genomes)
T=0.19697/156 (PRJEB37584)
T=0.212909/442 (HGDP_Stanford)
T=0.223461/421 (HapMap)
T=0.242826/19106 (PAGE_STUDY)
T=0.292554/4903 (TOMMO)
T=0.305119/894 (KOREAN)
C=0.375/9 (Siberian)
C=0.391753/76 (SGDP_PRJ)
HGVS:: NC_000006.12:g.30036275C>T, NC_000006.11:g.30004052C>T, NT_113891.3:g.1516010C>T, NT_113891.2:g.1516116C>T, NT_167248.2:g.1291404T>C, NT_167248.1:g.1297000T>C, NT_167245.2:g.1292161C>T, NT_167245.1:g.1297746C>T, NT_167249.2:g.1335171C>T, NT_167249.1:g.1334469C>T, NT_167246.2:g.1297025C>T, NT_167246.1:g.1302645C>T, NT_167247.2:g.1380349C>T, NT_167247.1:g.1385934C>T, NT_167244.2:g.1294335C>T, NT_167244.1:g.1244251C>T

PubMed

Select item 378164016.

rs3781640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:18482190 (GRCh38)
11:18503737 (GRCh37)
Canonical SPDI:: NC_000011.10:18482189:A:C,NC_000011.10:18482189:A:G
Gene:: TSG101 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.127792/25781 (ALFA)
G=0.1/4 (GENOME_DK)
G=0.104696/27712 (TOPMED)
G=0.105459/14787 (GnomAD)
G=0.115965/430 (TWINSUK)
G=0.122244/122 (GoNL)
G=0.124546/480 (ALSPAC)
G=0.125/27 (Qatari)
G=0.128333/77 (NorthernSweden)
G=0.15067/675 (Estonian)
G=0.156309/783 (1000Genomes)
G=0.164188/265 (HapMap)
G=0.175144/365 (HGDP_Stanford)
G=0.1875/12 (PRJEB36033)
G=0.249454/457 (Korea1K)
G=0.264151/56 (Vietnamese)
G=0.272696/799 (KOREAN)
G=0.289192/4846 (TOMMO)
A=0.434783/80 (SGDP_PRJ)
A=0.461538/12 (Siberian)
HGVS:: NC_000011.10:g.18482190A>C, NC_000011.10:g.18482190A>G, NC_000011.9:g.18503737A>C, NC_000011.9:g.18503737A>G, NG_012138.2:g.49753T>G, NG_012138.2:g.49753T>C

PubMed LitVar

Select item 376488017.

rs3764880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:12906707 (GRCh38)
X:12924826 (GRCh37)
Canonical SPDI:: NC_000023.11:12906706:A:G,NC_000023.11:12906706:A:T
Gene:: TLR8 (Varview), TLR8-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.293722/93538 (ALFA)
A=0.114865/17 (Vietnamese)
A=0.139241/44 (SGDP_PRJ)
G=0.175/7 (GENOME_DK)
A=0.186689/547 (KOREAN)
A=0.208333/5 (Siberian)
A=0.215687/2770 (TOMMO)
G=0.244029/705 (ALSPAC)
G=0.253432/2677 (GoESP)
G=0.262945/975 (TWINSUK)
G=0.292192/30319 (GnomAD)
G=0.309705/36412 (GnomAD_exomes)
G=0.329072/87102 (TOPMED)
G=0.333333/14 (PRJEB36033)
G=0.333333/178 (MGP)
G=0.345406/391 (Daghestan)
G=0.351852/38 (Qatari)
G=0.357943/29410 (ExAC)
G=0.444386/839 (HapMap)
G=0.451613/1705 (1000Genomes)
G=0.464971/969 (HGDP_Stanford)
HGVS:: NC_000023.11:g.12906707A>G, NC_000023.11:g.12906707A>T, NC_000023.10:g.12924826A>G, NC_000023.10:g.12924826A>T, NG_012882.2:g.5088A>G, NG_012882.2:g.5088A>T, NM_138636.5:c.1A>G, NM_138636.5:c.1A>T, NM_138636.4:c.1A>G, NM_138636.4:c.1A>T, NM_016610.4:c.-83A>G, NM_016610.4:c.-83A>T, NM_016610.3:c.-83A>G, NM_016610.3:c.-83A>T, NM_016610.2:c.-83A>G, NM_016610.2:c.-83A>T, NM_016610.1:c.-83G>A, NM_016610.1:c.-83G>T, NP_619542.1:p.Met1Val, NP_619542.1:p.Met1Leu

PubMed LitVar

Select item 374099618.

rs3740996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:5680051 (GRCh38)
11:5701281 (GRCh37)
Canonical SPDI:: NC_000011.10:5680050:G:A
Gene:: TRIM5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.119701/33292 (ALFA)
A=0.085/51 (NorthernSweden)
A=0.1/4 (GENOME_DK)
A=0.100262/1303 (GoESP)
A=0.100951/191 (HapMap)
A=0.101124/54 (MGP)
A=0.102694/8082 (PAGE_STUDY)
A=0.104518/14643 (GnomAD)
A=0.105962/28047 (TOPMED)
A=0.1104/553 (1000Genomes)
A=0.111842/34 (FINRISK)
A=0.113636/70 (Vietnamese)
A=0.114228/114 (GoNL)
A=0.114955/515 (Estonian)
A=0.12247/472 (ALSPAC)
A=0.122969/14926 (ExAC)
A=0.126091/31707 (GnomAD_exomes)
A=0.127292/472 (TWINSUK)
A=0.128975/146 (Daghestan)
A=0.158982/331 (HGDP_Stanford)
A=0.166667/6 (PRJEB36033)
A=0.170927/107 (Chileans)
A=0.17227/2887 (TOMMO)
A=0.180556/39 (Qatari)
A=0.186689/547 (KOREAN)
A=0.21066/166 (PRJEB37584)
G=0.431373/44 (SGDP_PRJ)
G=0.5/7 (Siberian)
HGVS:: NC_000011.10:g.5680051G>A, NC_000011.9:g.5701281G>A, NG_029122.1:g.10059C>T, NM_033092.4:c.127C>T, NM_033092.3:c.127C>T, NM_033092.2:c.127C>T, NM_033093.4:c.127C>T, NM_033093.3:c.127C>T, NM_033093.2:c.127C>T, NM_033034.3:c.127C>T, NM_033034.2:c.127C>T, NM_001410958.1:c.127C>T, XM_006718358.4:c.127C>T, XM_006718358.3:c.127C>T, XM_006718358.2:c.127C>T, XM_006718358.1:c.127C>T, XM_005253183.4:c.127C>T, XM_005253183.3:c.127C>T, XM_005253183.2:c.127C>T, XM_005253183.1:c.127C>T, XM_005253184.4:c.127C>T, XM_005253184.3:c.127C>T, XM_005253184.2:c.127C>T, XM_005253184.1:c.127C>T, XM_011520426.4:c.127C>T, XM_011520426.3:c.127C>T, XM_011520426.2:c.127C>T, XM_011520426.1:c.127C>T, XR_001748014.3:n.395C>T, XR_001748014.2:n.405C>T, XR_001748014.1:n.416C>T, XM_017018463.3:c.127C>T, XM_017018461.3:c.127C>T, XM_017018461.2:c.127C>T, XM_017018461.1:c.127C>T, XM_017018460.3:c.127C>T, XM_017018460.2:c.127C>T, XM_017018460.1:c.127C>T, XR_007062519.1:n.395C>T, XR_007062518.1:n.247C>T, XR_007062522.1:n.247C>T, XM_047427784.1:c.127C>T, XM_047427783.1:c.127C>T, XR_007062517.1:n.395C>T, XR_007062520.1:n.395C>T, XR_007062521.1:n.247C>T, NP_149083.2:p.His43Tyr, NP_149084.2:p.His43Tyr, NP_149023.2:p.His43Tyr, XP_006718421.1:p.His43Tyr, XP_005253240.1:p.His43Tyr, XP_005253241.1:p.His43Tyr, XP_011518728.1:p.His43Tyr, XP_016873952.1:p.His43Tyr, XP_016873950.1:p.His43Tyr, XP_016873949.1:p.His43Tyr, XP_047283740.1:p.His43Tyr, XP_047283739.1:p.His43Tyr

PubMed LitVar

Select item 373237819.

rs3732378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:39265671 (GRCh38)
3:39307162 (GRCh37)
Canonical SPDI:: NC_000003.12:39265670:G:A
Gene:: CX3CR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic,protective,risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.159764/57851 (ALFA)
A=0.012987/8 (Vietnamese)
A=0.032828/26 (PRJEB37584)
A=0.039847/73 (Korea1K)
A=0.043775/734 (TOMMO)
A=0.043806/128 (KOREAN)
A=0.075342/121 (HapMap)
A=0.077457/6096 (PAGE_STUDY)
A=0.083333/18 (Qatari)
A=0.085259/427 (1000Genomes)
A=0.098848/206 (HGDP_Stanford)
A=0.1/4 (GENOME_DK)
A=0.114232/30236 (TOPMED)
A=0.119048/10 (PRJEB36033)
A=0.121156/16973 (GnomAD)
A=0.136239/16453 (ExAC)
A=0.139582/34826 (GnomAD_exomes)
A=0.155203/176 (Daghestan)
A=0.164794/88 (MGP)
A=0.167763/51 (FINRISK)
A=0.17/102 (NorthernSweden)
A=0.172345/172 (GoNL)
A=0.174777/783 (Estonian)
A=0.177737/685 (ALSPAC)
A=0.178263/661 (TWINSUK)
G=0.463636/51 (SGDP_PRJ)
G=0.5/7 (Siberian)
HGVS:: NC_000003.12:g.39265671G>A, NC_000003.11:g.39307162G>A, NG_016362.1:g.21065C>T, NM_001337.4:c.839C>T, NM_001337.3:c.839C>T, NM_001171171.2:c.839C>T, NM_001171171.1:c.839C>T, NM_001171172.2:c.839C>T, NM_001171172.1:c.839C>T, NM_001171174.1:c.935C>T, XM_047447538.1:c.839C>T, NP_001328.1:p.Thr280Met, NP_001164642.1:p.Thr280Met, NP_001164643.1:p.Thr280Met, NP_001164645.1:p.Thr312Met, XP_047303494.1:p.Thr280Met

PubMed

Select item 302449020.

rs3024490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:206771966 (GRCh38)
1:206945311 (GRCh37)
Canonical SPDI:: NC_000001.11:206771965:A:C,NC_000001.11:206771965:A:G,NC_000001.11:206771965:A:T
Gene:: IL10 (Varview), IL19 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.216019/801 (TWINSUK)
A=0.227296/876 (ALSPAC)
A=0.237475/237 (GoNL)
A=0.24/144 (NorthernSweden)
A=0.25/10 (GENOME_DK)
A=0.256027/1147 (Estonian)
C=0.271028/58 (Vietnamese)
A=0.282407/61 (Qatari)
A=0.283482/127 (SGDP_PRJ)
A=0.3/15 (Siberian)
C=0.302389/886 (KOREAN)
C=0.307314/563 (Korea1K)
A=0.325755/86224 (TOPMED)
C=0.34264/270 (PRJEB37584)
C=0.35911/6019 (TOMMO)
A=0.422265/880 (HGDP_Stanford)
A=0.427858/2143 (1000Genomes)
A=0.436398/693 (HapMap)
C=0.45/18 (PRJEB36033)
HGVS:: NC_000001.11:g.206771966A>C, NC_000001.11:g.206771966A>G, NC_000001.11:g.206771966A>T, NC_000001.10:g.206945311A>C, NC_000001.10:g.206945311A>G, NC_000001.10:g.206945311A>T, NG_012088.1:g.5529T>G, NG_012088.1:g.5529T>C, NG_012088.1:g.5529T>A

PubMed

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