DMRT1 - SNP

Search results

Items: 1 to 20 of 65098

<< First< Prev

Page of 3255

Next >Last >>

Select item 2798941.

rs279894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:968334 (GRCh38)
9:968334 (GRCh37)
Canonical SPDI:: NC_000009.12:968333:G:A,NC_000009.12:968333:G:C,NC_000009.12:968333:G:T
Gene:: DMRT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (Korea1K)
G=0./0 (TOMMO)
G=0.000683/2 (KOREAN)
G=0.033654/7 (Vietnamese)
G=0.043165/24 (SGDP_PRJ)
G=0.064179/321 (1000Genomes)
G=0.071429/4 (Siberian)
G=0.110099/29142 (TOPMED)
G=0.111111/24 (Qatari)
G=0.113839/15960 (GnomAD)
G=0.15/6 (GENOME_DK)
G=0.156667/94 (NorthernSweden)
G=0.164062/735 (Estonian)
G=0.178775/689 (ALSPAC)
G=0.184196/683 (TWINSUK)
G=0.192385/192 (GoNL)
G=0.230337/123 (MGP)
HGVS:: NC_000009.12:g.968334G>A, NC_000009.12:g.968334G>C, NC_000009.12:g.968334G>T, NC_000009.11:g.968334G>A, NC_000009.11:g.968334G>C, NC_000009.11:g.968334G>T, NG_009221.1:g.131645G>A, NG_009221.1:g.131645G>C, NG_009221.1:g.131645G>T, NM_021951.3:c.*195G>A, NM_021951.3:c.*195G>C, NM_021951.3:c.*195G>T, NM_021951.2:c.*195G>A, NM_021951.2:c.*195G>C, NM_021951.2:c.*195G>T, NM_001363767.1:c.*195G>A, NM_001363767.1:c.*195G>C, NM_001363767.1:c.*195G>T, XM_011517773.4:c.*195G>A, XM_011517773.4:c.*195G>C, XM_011517773.4:c.*195G>T, XM_011517773.3:c.*195G>A, XM_011517773.3:c.*195G>C, XM_011517773.3:c.*195G>T, XM_011517773.2:c.*195G>A, XM_011517773.2:c.*195G>C, XM_011517773.2:c.*195G>T, XM_011517773.1:c.*195G>A, XM_011517773.1:c.*195G>C, XM_011517773.1:c.*195G>T, XM_006716732.2:c.*195G>A, XM_006716732.2:c.*195G>C, XM_006716732.2:c.*195G>T, XM_006716732.1:c.*195G>A, XM_006716732.1:c.*195G>C, XM_006716732.1:c.*195G>T, XM_011517770.2:c.*195G>A, XM_011517770.2:c.*195G>C, XM_011517770.2:c.*195G>T, XM_011517770.1:c.*195G>A, XM_011517770.1:c.*195G>C, XM_011517770.1:c.*195G>T, XM_011517771.2:c.*195G>A, XM_011517771.2:c.*195G>C, XM_011517771.2:c.*195G>T, XM_011517771.1:c.*195G>A, XM_011517771.1:c.*195G>C, XM_011517771.1:c.*195G>T

Select item 2798952.

rs279895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:967981 (GRCh38)
9:967981 (GRCh37)
Canonical SPDI:: NC_000009.12:967980:G:A,NC_000009.12:967980:G:C
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.147881/6951 (ALFA)
A=0./0 (KOREAN)
G=0./0 (Korea1K)
G=0./0 (TOMMO)
G=0.017915/11 (Vietnamese)
G=0.039568/22 (SGDP_PRJ)
G=0.063554/318 (1000Genomes)
G=0.070694/110 (HapMap)
G=0.071429/4 (Siberian)
G=0.105263/32 (FINRISK)
G=0.108338/28676 (TOPMED)
G=0.111111/24 (Qatari)
G=0.112261/15733 (GnomAD)
G=0.114789/28793 (GnomAD_exomes)
G=0.11747/14246 (ExAC)
G=0.122482/1593 (GoESP)
G=0.15/6 (GENOME_DK)
G=0.155/93 (NorthernSweden)
G=0.160268/718 (Estonian)
G=0.178516/688 (ALSPAC)
G=0.182039/675 (TWINSUK)
G=0.195391/195 (GoNL)
G=0.252809/135 (MGP)
HGVS:: NC_000009.12:g.967981G>A, NC_000009.12:g.967981G>C, NC_000009.11:g.967981G>A, NC_000009.11:g.967981G>C, NG_009221.1:g.131292G>A, NG_009221.1:g.131292G>C

Select item 9120613.

rs912061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:841424 (GRCh38)
9:841424 (GRCh37)
Canonical SPDI:: NC_000009.12:841423:C:G,NC_000009.12:841423:C:T
Gene:: DMRT1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.1052/530 (ALFA)
C=0.055556/12 (Qatari)
C=0.059678/230 (ALSPAC)
C=0.061219/227 (TWINSUK)
C=0.065/39 (NorthernSweden)
C=0.066132/66 (GoNL)
C=0.067634/303 (Estonian)
C=0.075/3 (GENOME_DK)
C=0.112546/61 (SGDP_PRJ)
C=0.118897/16476 (GnomAD)
C=0.131467/34798 (TOPMED)
C=0.158546/794 (1000Genomes)
C=0.160714/9 (Siberian)
C=0.160981/2698 (TOMMO)
C=0.205786/377 (Korea1K)
C=0.219604/643 (KOREAN)
HGVS:: NC_000009.12:g.841424C>G, NC_000009.12:g.841424C>T, NC_000009.11:g.841424C>G, NC_000009.11:g.841424C>T, NG_009221.1:g.4735C>G, NG_009221.1:g.4735C>T

Select item 10338334.

rs1033833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:894409 (GRCh38)
9:894409 (GRCh37)
Canonical SPDI:: NC_000009.12:894408:A:G
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.035066/951 (ALFA)
G=0.000425/7 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.001711/5 (KOREAN)
G=0.004673/1 (Vietnamese)
G=0.011667/7 (NorthernSweden)
G=0.018682/72 (ALSPAC)
G=0.02004/20 (GoNL)
G=0.024002/89 (TWINSUK)
G=0.025559/16 (Chileans)
G=0.029241/131 (Estonian)
G=0.037037/8 (Qatari)
G=0.039405/10430 (TOPMED)
G=0.039985/5610 (GnomAD)
G=0.040443/203 (1000Genomes)
G=0.04878/84 (HapMap)
A=0.5/14 (SGDP_PRJ)
HGVS:: NC_000009.12:g.894409A>G, NC_000009.11:g.894409A>G, NG_009221.1:g.57720A>G

Select item 10338365.

rs1033836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:894297 (GRCh38)
9:894297 (GRCh37)
Canonical SPDI:: NC_000009.12:894296:C:A,NC_000009.12:894296:C:G,NC_000009.12:894296:C:T
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.015/9 (NorthernSweden)
A=0.01667/2 (HapMap)
A=0.02305/23 (GoNL)
A=0.02413/93 (ALSPAC)
A=0.02434/13 (MGP)
A=0.025/1 (GENOME_DK)
A=0.02886/107 (TWINSUK)
A=0.03348/150 (Estonian)
A=0.0463/10 (Qatari)
A=0.10337/518 (1000Genomes)
A=0.11002/1844 (TOMMO)
A=0.125/27 (Vietnamese)
A=0.15666/287 (Korea1K)
A=0.16212/475 (KOREAN)
C=0.45763/54 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000009.12:g.894297C>A, NC_000009.12:g.894297C>G, NC_000009.12:g.894297C>T, NC_000009.11:g.894297C>A, NC_000009.11:g.894297C>G, NC_000009.11:g.894297C>T, NG_009221.1:g.57608C>A, NG_009221.1:g.57608C>G, NG_009221.1:g.57608C>T

Select item 14078086.

rs1407808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:847292 (GRCh38)
9:847292 (GRCh37)
Canonical SPDI:: NC_000009.12:847291:G:A,NC_000009.12:847291:G:C,NC_000009.12:847291:G:T
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.103067/29388 (ALFA)
G=0.030303/2 (PRJEB36033)
G=0.032407/7 (Qatari)
G=0.075/45 (NorthernSweden)
T=0.099251/53 (MGP)
G=0.099896/385 (ALSPAC)
G=0.107664/59 (SGDP_PRJ)
G=0.113269/420 (TWINSUK)
G=0.122853/17221 (GnomAD)
G=0.123919/258 (HGDP_Stanford)
G=0.124736/236 (HapMap)
G=0.127455/571 (Estonian)
G=0.128951/34132 (TOPMED)
G=0.130261/130 (GoNL)
G=0.138351/693 (1000Genomes)
G=0.145247/11424 (PAGE_STUDY)
G=0.15/6 (GENOME_DK)
G=0.155425/2605 (TOMMO)
G=0.160714/9 (Siberian)
G=0.180556/39 (Vietnamese)
G=0.194869/357 (Korea1K)
G=0.199317/584 (KOREAN)
G=0.202532/160 (PRJEB37584)
HGVS:: NC_000009.12:g.847292G>A, NC_000009.12:g.847292G>C, NC_000009.12:g.847292G>T, NC_000009.11:g.847292G>A, NC_000009.11:g.847292G>C, NC_000009.11:g.847292G>T, NG_009221.1:g.10603G>A, NG_009221.1:g.10603G>C, NG_009221.1:g.10603G>T

Select item 22739297.

rs2273929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:847208 (GRCh38)
9:847208 (GRCh37)
Canonical SPDI:: NC_000009.12:847207:A:G
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.494169/16695 (ALFA)
G=0.21028/45 (Vietnamese)
G=0.22628/663 (KOREAN)
G=0.277727/4655 (TOMMO)
A=0.305556/11 (Siberian)
A=0.328313/109 (SGDP_PRJ)
G=0.375/24 (PRJEB36033)
G=0.389317/809 (HGDP_Stanford)
G=0.410681/2057 (1000Genomes)
A=0.416667/90 (Qatari)
G=0.425/17 (GENOME_DK)
G=0.43131/810 (HapMap)
A=0.46/276 (NorthernSweden)
G=0.466292/249 (MGP)
A=0.468864/1807 (ALSPAC)
G=0.47443/125577 (TOPMED)
A=0.475458/1763 (TWINSUK)
A=0.483929/2168 (Estonian)
G=0.489263/68490 (GnomAD)
A=0.495992/495 (GoNL)
HGVS:: NC_000009.12:g.847208A>G, NC_000009.11:g.847208A>G, NG_009221.1:g.10519A>G

Select item 22739308.

rs2273930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:847265 (GRCh38)
9:847265 (GRCh37)
Canonical SPDI:: NC_000009.12:847264:G:A,NC_000009.12:847264:G:C
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.457975/17763 (ALFA)
A=0.212264/45 (Vietnamese)
A=0.217065/636 (KOREAN)
A=0.254682/136 (MGP)
G=0.305556/11 (Siberian)
G=0.334356/109 (SGDP_PRJ)
A=0.405996/2033 (1000Genomes)
G=0.421296/91 (Qatari)
A=0.425/17 (GENOME_DK)
A=0.442073/145 (HapMap)
A=0.453888/502 (Daghestan)
G=0.466667/280 (NorthernSweden)
G=0.468864/1807 (ALSPAC)
A=0.46984/124362 (TOPMED)
G=0.475458/1763 (TWINSUK)
G=0.491518/2202 (Estonian)
G=0.496994/496 (GoNL)
HGVS:: NC_000009.12:g.847265G>A, NC_000009.12:g.847265G>C, NC_000009.11:g.847265G>A, NC_000009.11:g.847265G>C, NG_009221.1:g.10576G>A, NG_009221.1:g.10576G>C

Select item 22739329.

rs2273932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:847365 (GRCh38)
9:847365 (GRCh37)
Canonical SPDI:: NC_000009.12:847364:C:A,NC_000009.12:847364:C:G,NC_000009.12:847364:C:T
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.163333/98 (NorthernSweden)
C=0.21562/831 (ALSPAC)
C=0.225728/837 (TWINSUK)
C=0.229167/11 (Siberian)
C=0.234152/1049 (Estonian)
C=0.234469/234 (GoNL)
C=0.240741/104 (SGDP_PRJ)
C=0.25/54 (Qatari)
C=0.317167/83951 (TOPMED)
C=0.35/14 (GENOME_DK)
G=0.369159/79 (Vietnamese)
G=0.383734/703 (Korea1K)
C=0.39569/1982 (1000Genomes)
G=0.396246/1161 (KOREAN)
G=0.408309/6843 (TOMMO)
C=0.426829/140 (HapMap)
HGVS:: NC_000009.12:g.847365C>A, NC_000009.12:g.847365C>G, NC_000009.12:g.847365C>T, NC_000009.11:g.847365C>A, NC_000009.11:g.847365C>G, NC_000009.11:g.847365C>T, NG_009221.1:g.10676C>A, NG_009221.1:g.10676C>G, NG_009221.1:g.10676C>T

Select item 373958310.

rs3739583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:841971 (GRCh38)
9:841971 (GRCh37)
Canonical SPDI:: NC_000009.12:841970:T:A
Gene:: DMRT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.143223/6995 (ALFA)
A=0.108333/65 (NorthernSweden)
A=0.111607/500 (Estonian)
A=0.114785/1326 (GoESP)
A=0.134665/519 (ALSPAC)
A=0.137001/508 (TWINSUK)
A=0.137417/19259 (GnomAD)
A=0.149911/39680 (TOPMED)
A=0.189815/41 (Qatari)
A=0.190897/36172 (GnomAD_exomes)
A=0.212963/69 (HapMap)
A=0.220019/1102 (1000Genomes)
A=0.225/9 (GENOME_DK)
A=0.267839/12927 (ExAC)
T=0.358974/84 (SGDP_PRJ)
T=0.375/6 (Siberian)
A=0.429245/91 (Vietnamese)
A=0.45352/1327 (KOREAN)
A=0.46917/837 (Korea1K)
A=0.475262/7964 (TOMMO)
HGVS:: NC_000009.12:g.841971T>A, NC_000009.11:g.841971T>A, NG_009221.1:g.5282T>A, NM_021951.3:c.133T>A, NM_021951.2:c.133T>A, XM_006716732.2:c.133T>A, XM_006716732.1:c.133T>A, NP_068770.2:p.Ser45Thr, XP_006716795.1:p.Ser45Thr

PubMed

Select item 373958411.

rs3739584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:841825 (GRCh38)
9:841825 (GRCh37)
Canonical SPDI:: NC_000009.12:841824:C:T
Gene:: DMRT1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.145764/4721 (ALFA)
T=0.029963/16 (MGP)
T=0.108333/65 (NorthernSweden)
T=0.114509/513 (Estonian)
T=0.128891/1673 (GoESP)
T=0.135963/524 (ALSPAC)
T=0.137001/508 (TWINSUK)
T=0.13792/19337 (GnomAD)
T=0.15021/39759 (TOPMED)
T=0.182133/41872 (GnomAD_exomes)
T=0.189815/41 (Qatari)
T=0.220175/1103 (1000Genomes)
T=0.225/9 (GENOME_DK)
T=0.259167/17995 (ExAC)
C=0.358974/84 (SGDP_PRJ)
C=0.375/6 (Siberian)
T=0.439252/94 (Vietnamese)
T=0.453552/1328 (KOREAN)
T=0.461411/837 (Korea1K)
T=0.475334/7967 (TOMMO)
HGVS:: NC_000009.12:g.841825C>T, NC_000009.11:g.841825C>T, NG_009221.1:g.5136C>T, NM_021951.3:c.-14C>T, NM_021951.2:c.-14C>T, XM_006716732.2:c.-14C>T, XM_006716732.1:c.-14C>T

Select item 929908612.

rs9299086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:917214 (GRCh38)
9:917214 (GRCh37)
Canonical SPDI:: NC_000009.12:917213:A:G
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.040614/6066 (ALFA)
G=0./0 (PRJEB36033)
G=0.01503/15 (GoNL)
G=0.02/12 (NorthernSweden)
G=0.028795/129 (Estonian)
G=0.05/2 (GENOME_DK)
G=0.064815/14 (Qatari)
G=0.102372/14345 (GnomAD)
G=0.109524/23 (Vietnamese)
G=0.117889/31204 (TOPMED)
G=0.139132/697 (1000Genomes)
G=0.141555/295 (HGDP_Stanford)
G=0.158999/2665 (TOMMO)
G=0.167019/316 (HapMap)
G=0.204694/375 (Korea1K)
G=0.209215/613 (KOREAN)
A=0.4125/66 (SGDP_PRJ)
A=0.5/3 (Siberian)
HGVS:: NC_000009.12:g.917214A>G, NC_000009.11:g.917214A>G, NG_009221.1:g.80525A>G

Select item 1012330713.

rs10123307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:917015 (GRCh38)
9:917015 (GRCh37)
Canonical SPDI:: NC_000009.12:917014:T:A,NC_000009.12:917014:T:G
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.108443/2425 (ALFA)
G=0.065/39 (NorthernSweden)
G=0.087174/87 (GoNL)
G=0.09308/417 (Estonian)
G=0.097896/363 (TWINSUK)
G=0.100934/389 (ALSPAC)
G=0.102804/22 (Vietnamese)
G=0.104869/56 (MGP)
G=0.161547/2708 (TOMMO)
G=0.175/7 (GENOME_DK)
G=0.189815/41 (Qatari)
G=0.196486/123 (Chileans)
G=0.209607/384 (Korea1K)
G=0.212287/622 (KOREAN)
G=0.220666/58408 (TOPMED)
G=0.249375/1249 (1000Genomes)
G=0.278541/527 (HapMap)
T=0.413043/95 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000009.12:g.917015T>A, NC_000009.12:g.917015T>G, NC_000009.11:g.917015T>A, NC_000009.11:g.917015T>G, NG_009221.1:g.80326T>A, NG_009221.1:g.80326T>G

Select item 1211543314.

rs12115433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:846742 (GRCh38)
9:846742 (GRCh37)
Canonical SPDI:: NC_000009.12:846741:G:C,NC_000009.12:846741:G:T
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.030388/540 (ALFA)
C=0.000106/2 (TOMMO)
C=0.001027/3 (KOREAN)
C=0.001638/3 (Korea1K)
C=0.011236/6 (MGP)
C=0.025/1 (GENOME_DK)
C=0.042056/9 (Vietnamese)
C=0.044191/221 (1000Genomes)
C=0.051667/31 (NorthernSweden)
C=0.054746/203 (TWINSUK)
C=0.056112/56 (GoNL)
C=0.05739/8045 (GnomAD)
C=0.060606/20 (HapMap)
C=0.063311/244 (ALSPAC)
C=0.069643/312 (Estonian)
C=0.078704/17 (Qatari)
G=0.479167/23 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000009.12:g.846742G>C, NC_000009.12:g.846742G>T, NC_000009.11:g.846742G>C, NC_000009.11:g.846742G>T, NG_009221.1:g.10053G>C, NG_009221.1:g.10053G>T

Select item 1692543115.

rs16925431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:894036 (GRCh38)
9:894036 (GRCh37)
Canonical SPDI:: NC_000009.12:894035:T:C
Gene:: DMRT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.026438/2433 (ALFA)
C=0.004673/1 (Vietnamese)
C=0.011667/7 (NorthernSweden)
C=0.018682/72 (ALSPAC)
C=0.019038/19 (GoNL)
C=0.020767/13 (Chileans)
C=0.023026/7 (FINRISK)
C=0.024002/89 (TWINSUK)
C=0.024217/6090 (GnomAD_exomes)
C=0.025517/3098 (ExAC)
C=0.027778/6 (Qatari)
C=0.029241/131 (Estonian)
C=0.031835/17 (MGP)
C=0.038947/10309 (TOPMED)
C=0.039556/5549 (GnomAD)
C=0.039663/199 (1000Genomes)
C=0.040289/524 (GoESP)
C=0.048667/84 (HapMap)
T=0.5/13 (SGDP_PRJ)
HGVS:: NC_000009.12:g.894036T>C, NC_000009.11:g.894036T>C, NG_009221.1:g.57347T>C, NM_021951.3:c.663T>C, NM_021951.2:c.663T>C, NM_001363767.1:c.189T>C, XM_011517773.4:c.189T>C, XM_011517773.3:c.189T>C, XM_011517773.2:c.189T>C, XM_011517773.1:c.189T>C, XM_006716732.2:c.663T>C, XM_006716732.1:c.663T>C, XM_011517770.2:c.189T>C, XM_011517770.1:c.711T>C, XM_011517771.2:c.189T>C, XM_011517771.1:c.711T>C

Select item 3494605816.

rs34946058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:894156 (GRCh38)
9:894156 (GRCh37)
Canonical SPDI:: NC_000009.12:894155:C:G,NC_000009.12:894155:C:T
Gene:: DMRT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00217/84 (ALFA)
T=0.00034/1 (KOREAN)
G=0.001/1 (GoNL)
G=0.00313/14 (Estonian)
T=0.00463/1 (Qatari)
G=0.00485/18 (TWINSUK)
G=0.00562/3 (MGP)
G=0.00571/22 (ALSPAC)
G=0.01167/7 (NorthernSweden)
G=0.01645/5 (FINRISK)
T=0.01905/95 (1000Genomes)
T=0.01915/249 (GoESP)
T=0.42857/6 (SGDP_PRJ)
HGVS:: NC_000009.12:g.894156C>G, NC_000009.12:g.894156C>T, NC_000009.11:g.894156C>G, NC_000009.11:g.894156C>T, NG_009221.1:g.57467C>G, NG_009221.1:g.57467C>T, NM_021951.3:c.783C>G, NM_021951.3:c.783C>T, NM_021951.2:c.783C>G, NM_021951.2:c.783C>T, NM_001363767.1:c.309C>G, NM_001363767.1:c.309C>T, XM_011517773.4:c.309C>G, XM_011517773.4:c.309C>T, XM_011517773.3:c.309C>G, XM_011517773.3:c.309C>T, XM_011517773.2:c.309C>G, XM_011517773.2:c.309C>T, XM_011517773.1:c.309C>G, XM_011517773.1:c.309C>T, XM_006716732.2:c.783C>G, XM_006716732.2:c.783C>T, XM_006716732.1:c.783C>G, XM_006716732.1:c.783C>T, XM_011517770.2:c.309C>G, XM_011517770.2:c.309C>T, XM_011517770.1:c.831C>G, XM_011517770.1:c.831C>T, XM_011517771.2:c.309C>G, XM_011517771.2:c.309C>T, XM_011517771.1:c.831C>G, XM_011517771.1:c.831C>T

PubMed

Select item 3584650317.

rs35846503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:968054 (GRCh38)
9:968054 (GRCh37)
Canonical SPDI:: NC_000009.12:968053:A:G
Gene:: DMRT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001893/405 (ALFA)
G=0.001002/1 (GoNL)
G=0.004904/1233 (GnomAD_exomes)
G=0.006213/754 (ExAC)
G=0.020384/2858 (GnomAD)
G=0.020913/272 (GoESP)
G=0.021565/5708 (TOPMED)
G=0.027014/135 (1000Genomes)
G=0.031808/2503 (PAGE_STUDY)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000009.12:g.968054A>G, NC_000009.11:g.968054A>G, NG_009221.1:g.131365A>G, NM_021951.3:c.1037A>G, NM_021951.2:c.1037A>G, NM_001363767.1:c.563A>G, XM_011517773.4:c.566A>G, XM_011517773.3:c.566A>G, XM_011517773.2:c.566A>G, XM_011517773.1:c.566A>G, XM_006716732.2:c.1040A>G, XM_006716732.1:c.1040A>G, XM_011517770.2:c.566A>G, XM_011517770.1:c.1088A>G, XM_011517771.2:c.563A>G, XM_011517771.1:c.1085A>G, NP_068770.2:p.Lys346Arg, NP_001350696.1:p.Lys188Arg, XP_011516075.1:p.Lys189Arg, XP_006716795.1:p.Lys347Arg, XP_011516072.2:p.Lys189Arg, XP_011516073.2:p.Lys188Arg

Select item 5590558318.

rs55905583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:846952 (GRCh38)
9:846952 (GRCh37)
Canonical SPDI:: NC_000009.12:846951:G:A,NC_000009.12:846951:G:C
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.004379/196 (ALFA)
C=0.003745/2 (MGP)
C=0.004442/538 (ExAC)
C=0.011868/59 (1000Genomes)
C=0.013917/181 (GoESP)
C=0.013918/1952 (GnomAD)
C=0.014647/3877 (TOPMED)
C=0.032407/7 (Qatari)
G=0.375/3 (SGDP_PRJ)
HGVS:: NC_000009.12:g.846952G>A, NC_000009.12:g.846952G>C, NC_000009.11:g.846952G>A, NC_000009.11:g.846952G>C, NG_009221.1:g.10263G>A, NG_009221.1:g.10263G>C

Select item 5613001319.

rs56130013 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:842316 (GRCh38)
9:842316 (GRCh37)
Canonical SPDI:: NC_000009.12:842315:CC:C
Gene:: DMRT1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.412479/6730 (ALFA)
-=0.264319/4422 (TOMMO)
-=0.292473/1465 (1000Genomes)
-=0.384157/52452 (GnomAD)
-=0.38994/32032 (GnomAD_exomes)
-=0.473333/284 (NorthernSweden)
-=0.475/19 (GENOME_DK)
-=0.476703/2128 (Estonian)
-=0.477686/1841 (ALSPAC)
-=0.477769/2493 (ExAC)
-=0.485707/1801 (TWINSUK)
HGVS:: NC_000009.12:g.842317del, NC_000009.11:g.842317del, NG_009221.1:g.5628del

Select item 5674502120.

rs56745021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:917162 (GRCh38)
9:917162 (GRCh37)
Canonical SPDI:: NC_000009.12:917161:A:G,NC_000009.12:917161:A:T
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.055271/1857 (ALFA)
G=0.01503/15 (GoNL)
G=0.02/12 (NorthernSweden)
G=0.028795/129 (Estonian)
G=0.05/2 (GENOME_DK)
G=0.060185/13 (Qatari)
G=0.089285/12509 (GnomAD)
G=0.098131/21 (Vietnamese)
G=0.104303/27608 (TOPMED)
G=0.126483/633 (1000Genomes)
G=0.159141/2667 (TOMMO)
G=0.204694/375 (Korea1K)
G=0.208532/611 (KOREAN)
A=0.431507/63 (SGDP_PRJ)
A=0.5/3 (Siberian)
HGVS:: NC_000009.12:g.917162A>G, NC_000009.12:g.917162A>T, NC_000009.11:g.917162A>G, NC_000009.11:g.917162A>T, NG_009221.1:g.80473A>G, NG_009221.1:g.80473A>T

<< First< Prev

Page of 3255

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 65098

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity