"human"[ORGN] and GPX3 - SNP

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Select item 46611.

rs4661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151028754 (GRCh38)
5:150408315 (GRCh37)
Canonical SPDI:: NC_000005.10:151028753:C:T
Gene:: GPX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.046682/9847 (ALFA)
T=0.011555/58 (1000Genomes)
T=0.026217/14 (MGP)
T=0.029004/7677 (TOPMED)
T=0.035094/4915 (GnomAD)
T=0.045/27 (NorthernSweden)
T=0.05151/191 (TWINSUK)
T=0.055786/215 (ALSPAC)
T=0.064128/64 (GoNL)
T=0.075/3 (GENOME_DK)
T=0.084152/377 (Estonian)
C=0.416667/5 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.151028754C>T, NC_000005.9:g.150408315C>T, NG_030590.1:g.63907G>A, NM_002084.5:c.*624C>T, NM_002084.4:c.*624C>T, NM_002084.3:c.*624C>T, NM_001329790.2:c.*624C>T, NM_001329790.1:c.*624C>T

Select item 115482.

rs11548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151028222 (GRCh38)
5:150407783 (GRCh37)
Canonical SPDI:: NC_000005.10:151028221:C:T
Gene:: GPX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.087071/24642 (ALFA)
T=0.059419/229 (ALSPAC)
T=0.062837/233 (TWINSUK)
T=0.068333/41 (NorthernSweden)
T=0.073661/330 (Estonian)
T=0.075/3 (GENOME_DK)
T=0.078704/17 (Qatari)
T=0.08517/85 (GoNL)
T=0.095102/13331 (GnomAD)
T=0.097378/52 (MGP)
T=0.102041/10 (PRJEB36033)
T=0.112479/29772 (TOPMED)
T=0.156861/12345 (PAGE_STUDY)
T=0.172833/327 (HapMap)
T=0.176765/885 (1000Genomes)
T=0.197697/412 (HGDP_Stanford)
T=0.350237/5870 (TOMMO)
C=0.382716/62 (SGDP_PRJ)
C=0.409091/9 (Siberian)
T=0.41976/769 (Korea1K)
T=0.436519/1279 (KOREAN)
T=0.444162/350 (PRJEB37584)
HGVS:: NC_000005.10:g.151028222C>T, NC_000005.9:g.150407783C>T, NG_030590.1:g.64439G>A, NM_002084.5:c.*92C>T, NM_002084.4:c.*92C>T, NM_002084.3:c.*92C>T, NM_001329790.2:c.*92C>T, NM_001329790.1:c.*92C>T

PubMed LitVar

Select item 8699753.

rs869975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:151026811 (GRCh38)
5:150406372 (GRCh37)
Canonical SPDI:: NC_000005.10:151026810:G:A,NC_000005.10:151026810:G:T
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.072049/1361 (ALFA)
A=0.059678/230 (ALSPAC)
A=0.060185/13 (Qatari)
A=0.062837/233 (TWINSUK)
A=0.068333/41 (NorthernSweden)
A=0.073034/39 (MGP)
A=0.073884/331 (Estonian)
A=0.074151/10396 (GnomAD)
A=0.075/3 (GENOME_DK)
A=0.08517/85 (GoNL)
A=0.089856/23784 (TOPMED)
A=0.127273/42 (HapMap)
A=0.153186/767 (1000Genomes)
A=0.350556/5875 (TOMMO)
G=0.388158/59 (SGDP_PRJ)
A=0.392523/84 (Vietnamese)
G=0.409091/9 (Siberian)
A=0.41976/769 (Korea1K)
A=0.43686/1280 (KOREAN)
HGVS:: NC_000005.10:g.151026811G>A, NC_000005.10:g.151026811G>T, NC_000005.9:g.150406372G>A, NC_000005.9:g.150406372G>T

LitVar

Select item 8699764.

rs869976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151026876 (GRCh38)
5:150406437 (GRCh37)
Canonical SPDI:: NC_000005.10:151026875:A:G
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.023615/3426 (ALFA)
G=0.003006/3 (GoNL)
G=0.003289/1 (FINRISK)
G=0.005189/20 (ALSPAC)
G=0.008091/30 (TWINSUK)
G=0.0125/56 (Estonian)
G=0.013333/8 (NorthernSweden)
G=0.021138/13 (Vietnamese)
G=0.025/1 (GENOME_DK)
G=0.028328/83 (KOREAN)
G=0.029963/16 (MGP)
G=0.032205/59 (Korea1K)
G=0.03654/8949 (GnomAD_exomes)
G=0.042241/4994 (ExAC)
G=0.075874/951 (GoESP)
G=0.076844/10773 (GnomAD)
G=0.078704/17 (Qatari)
G=0.08199/21702 (TOPMED)
G=0.111961/561 (1000Genomes)
G=0.128507/229 (HapMap)
G=0.143959/2413 (TOMMO)
A=0.404762/34 (SGDP_PRJ)
A=0.5/4 (Siberian)
HGVS:: NC_000005.10:g.151026876A>G, NC_000005.9:g.150406437A>G

PubMed LitVar

Select item 8704065.

rs870406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:151021040 (GRCh38)
5:150400601 (GRCh37)
Canonical SPDI:: NC_000005.10:151021039:G:A,NC_000005.10:151021039:G:C
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.119234/17820 (ALFA)
A=0.081667/49 (NorthernSweden)
A=0.084567/160 (HapMap)
A=0.091193/457 (1000Genomes)
A=0.092387/24454 (TOPMED)
A=0.096717/13552 (GnomAD)
A=0.116505/432 (TWINSUK)
A=0.118197/1981 (TOMMO)
A=0.130773/504 (ALSPAC)
A=0.132265/132 (GoNL)
A=0.145742/267 (Korea1K)
A=0.152679/684 (Estonian)
A=0.162902/476 (KOREAN)
A=0.183036/205 (Daghestan)
A=0.231481/50 (Qatari)
A=0.275/11 (GENOME_DK)
G=0.475/57 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.151021040G>A, NC_000005.10:g.151021040G>C, NC_000005.9:g.150400601G>A, NC_000005.9:g.150400601G>C

PubMed LitVar

Select item 8704076.

rs870407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151021026 (GRCh38)
5:150400587 (GRCh37)
Canonical SPDI:: NC_000005.10:151021025:A:G
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.165261/10735 (ALFA)
G=0.039216/4 (PRJEB36033)
G=0.095/57 (NorthernSweden)
G=0.128101/475 (TWINSUK)
G=0.139279/139 (GoNL)
G=0.142968/551 (ALSPAC)
G=0.166518/746 (Estonian)
G=0.180131/330 (Korea1K)
G=0.195563/573 (KOREAN)
G=0.210917/29517 (GnomAD)
G=0.213567/56529 (TOPMED)
G=0.23501/486 (HGDP_Stanford)
G=0.246096/1232 (1000Genomes)
G=0.26205/4392 (TOMMO)
G=0.277453/475 (HapMap)
G=0.3/12 (GENOME_DK)
G=0.319444/69 (Qatari)
A=0.403846/84 (SGDP_PRJ)
A=0.416667/5 (Siberian)
HGVS:: NC_000005.10:g.151021026A>G, NC_000005.9:g.150400587A>G

LitVar

Select item 10593167.

rs1059316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151028843 (GRCh38)
5:150408404 (GRCh37)
Canonical SPDI:: NC_000005.10:151028842:C:T
Gene:: GPX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000684/2 (KOREAN)
HGVS:: NC_000005.10:g.151028843C>T, NC_000005.9:g.150408404C>T, NG_030590.1:g.63818G>A, NM_002084.5:c.*713C>T, NM_002084.4:c.*713C>T, NM_002084.3:c.*713C>T, NM_001329790.2:c.*713C>T, NM_001329790.1:c.*713C>T

Select item 10645068.

rs1064506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:151028639 (GRCh38)
5:150408200 (GRCh37)
Canonical SPDI:: NC_000005.10:151028638:C:A,NC_000005.10:151028638:C:T
Gene:: GPX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151028639C>A, NC_000005.10:g.151028639C>T, NC_000005.9:g.150408200C>A, NC_000005.9:g.150408200C>T, NG_030590.1:g.64022G>T, NG_030590.1:g.64022G>A, NM_002084.5:c.*509C>A, NM_002084.5:c.*509C>T, NM_002084.4:c.*509C>A, NM_002084.4:c.*509C>T, NM_002084.3:c.*509C>A, NM_002084.3:c.*509C>T, NM_001329790.2:c.*509C>A, NM_001329790.2:c.*509C>T, NM_001329790.1:c.*509C>A, NM_001329790.1:c.*509C>T

Select item 18036779.

rs1803677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:151028197 (GRCh38)
5:150407758 (GRCh37)
Canonical SPDI:: NC_000005.10:151028196:C:G,NC_000005.10:151028196:C:T
Gene:: GPX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151028197C>G, NC_000005.10:g.151028197C>T, NC_000005.9:g.150407758C>G, NC_000005.9:g.150407758C>T, NG_030590.1:g.64464G>C, NG_030590.1:g.64464G>A, NM_002084.5:c.*67C>G, NM_002084.5:c.*67C>T, NM_002084.4:c.*67C>G, NM_002084.4:c.*67C>T, NM_002084.3:c.*67C>G, NM_002084.3:c.*67C>T, NM_001329790.2:c.*67C>G, NM_001329790.2:c.*67C>T, NM_001329790.1:c.*67C>G, NM_001329790.1:c.*67C>T

Select item 194623410.

rs1946234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:151019649 (GRCh38)
5:150399210 (GRCh37)
Canonical SPDI:: NC_000005.10:151019648:A:C
Gene:: GPX3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.132562/27641 (ALFA)
C=0.051282/4 (PRJEB36033)
C=0.086667/52 (NorthernSweden)
C=0.118393/439 (TWINSUK)
C=0.130773/504 (ALSPAC)
C=0.133267/133 (GoNL)
C=0.137766/2309 (TOMMO)
C=0.150973/39961 (TOPMED)
C=0.151654/21241 (GnomAD)
C=0.155134/695 (Estonian)
C=0.1599/801 (1000Genomes)
C=0.165393/303 (Korea1K)
C=0.178647/338 (HapMap)
C=0.182253/534 (KOREAN)
C=0.190979/398 (HGDP_Stanford)
C=0.263889/57 (Qatari)
C=0.3/12 (GENOME_DK)
A=0.416667/5 (Siberian)
A=0.45679/74 (SGDP_PRJ)
HGVS:: NC_000005.10:g.151019649A>C, NC_000005.9:g.150399210A>C

PubMed LitVar

Select item 194623511.

rs1946235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:151019664 (GRCh38)
5:150399225 (GRCh37)
Canonical SPDI:: NC_000005.10:151019663:T:C,NC_000005.10:151019663:T:G
Gene:: GPX3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.131466/20530 (ALFA)
C=0.073482/46 (Chileans)
C=0.086667/52 (NorthernSweden)
C=0.118123/438 (TWINSUK)
C=0.131033/505 (ALSPAC)
C=0.133267/133 (GoNL)
C=0.137802/2310 (TOMMO)
C=0.151664/40144 (TOPMED)
C=0.155134/695 (Estonian)
C=0.160212/802 (1000Genomes)
C=0.165393/303 (Korea1K)
C=0.180085/340 (HapMap)
C=0.182594/535 (KOREAN)
C=0.263889/57 (Qatari)
C=0.3/12 (GENOME_DK)
T=0.416667/5 (Siberian)
T=0.45679/74 (SGDP_PRJ)
HGVS:: NC_000005.10:g.151019664T>C, NC_000005.10:g.151019664T>G, NC_000005.9:g.150399225T>C, NC_000005.9:g.150399225T>G

Select item 194623612.

rs1946236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:151019730 (GRCh38)
5:150399291 (GRCh37)
Canonical SPDI:: NC_000005.10:151019729:A:C,NC_000005.10:151019729:A:T
Gene:: GPX3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.077817/1246 (ALFA)
T=0.086667/52 (NorthernSweden)
T=0.118932/441 (TWINSUK)
T=0.130841/28 (Vietnamese)
T=0.131292/506 (ALSPAC)
T=0.133267/133 (GoNL)
T=0.137731/2308 (TOMMO)
T=0.142424/47 (HapMap)
T=0.151623/40133 (TOPMED)
T=0.15271/21388 (GnomAD)
T=0.155134/695 (Estonian)
T=0.160212/802 (1000Genomes)
T=0.165393/303 (Korea1K)
T=0.182594/535 (KOREAN)
T=0.263889/57 (Qatari)
T=0.3/12 (GENOME_DK)
A=0.416667/5 (Siberian)
A=0.45625/73 (SGDP_PRJ)
HGVS:: NC_000005.10:g.151019730A>C, NC_000005.10:g.151019730A>T, NC_000005.9:g.150399291A>C, NC_000005.9:g.150399291A>T

Select item 207059313.

rs2070593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:151028379 (GRCh38)
5:150407940 (GRCh37)
Canonical SPDI:: NC_000005.10:151028378:G:A,NC_000005.10:151028378:G:C,NC_000005.10:151028378:G:T
Gene:: GPX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.188433/22682 (ALFA)
A=0.125/10 (PRJEB36033)
A=0.146667/88 (NorthernSweden)
A=0.164239/609 (TWINSUK)
A=0.174624/673 (ALSPAC)
A=0.192527/26963 (GnomAD)
A=0.20419/54047 (TOPMED)
A=0.207415/207 (GoNL)
A=0.232143/1040 (Estonian)
A=0.263889/57 (Qatari)
A=0.27167/514 (HapMap)
A=0.275141/1378 (1000Genomes)
G=0.3125/10 (Siberian)
A=0.325/13 (GENOME_DK)
G=0.353571/99 (SGDP_PRJ)
A=0.354467/738 (HGDP_Stanford)
G=0.37884/1110 (KOREAN)
G=0.412118/755 (Korea1K)
G=0.429245/91 (Vietnamese)
A=0.493559/8272 (TOMMO)
HGVS:: NC_000005.10:g.151028379G>A, NC_000005.10:g.151028379G>C, NC_000005.10:g.151028379G>T, NC_000005.9:g.150407940G>A, NC_000005.9:g.150407940G>C, NC_000005.9:g.150407940G>T, NG_030590.1:g.64282C>T, NG_030590.1:g.64282C>G, NG_030590.1:g.64282C>A, NM_002084.5:c.*249G>A, NM_002084.5:c.*249G>C, NM_002084.5:c.*249G>T, NM_002084.4:c.*249G>A, NM_002084.4:c.*249G>C, NM_002084.4:c.*249G>T, NM_002084.3:c.*249G>A, NM_002084.3:c.*249G>C, NM_002084.3:c.*249G>T, NM_001329790.2:c.*249G>A, NM_001329790.2:c.*249G>C, NM_001329790.2:c.*249G>T, NM_001329790.1:c.*249G>A, NM_001329790.1:c.*249G>C, NM_001329790.1:c.*249G>T

PubMed LitVar

Select item 223030314.

rs2230303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:151028268 (GRCh38)
5:150407829 (GRCh37)
Canonical SPDI:: NC_000005.10:151028267:T:C,NC_000005.10:151028267:T:G
Gene:: GPX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.014992/3659 (ALFA)
G=0.003006/3 (GoNL)
G=0.00463/1 (Vietnamese)
G=0.00467/18 (ALSPAC)
G=0.007821/29 (TWINSUK)
G=0.008333/5 (NorthernSweden)
G=0.009582/28 (KOREAN)
G=0.010045/45 (Estonian)
G=0.026217/14 (MGP)
G=0.055556/12 (Qatari)
G=0.05613/7869 (GnomAD)
G=0.085728/429 (1000Genomes)
G=0.089894/153 (HapMap)
G=0.09634/7580 (PAGE_STUDY)
G=0.123788/2075 (TOMMO)
T=0.456522/21 (SGDP_PRJ)
HGVS:: NC_000005.10:g.151028268T>C, NC_000005.10:g.151028268T>G, NC_000005.9:g.150407829T>C, NC_000005.9:g.150407829T>G, NG_030590.1:g.64393A>G, NG_030590.1:g.64393A>C, NM_002084.5:c.*138T>C, NM_002084.5:c.*138T>G, NM_002084.4:c.*138T>C, NM_002084.4:c.*138T>G, NM_002084.3:c.*138T>C, NM_002084.3:c.*138T>G, NM_001329790.2:c.*138T>C, NM_001329790.2:c.*138T>G, NM_001329790.1:c.*138T>C, NM_001329790.1:c.*138T>G

PubMed LitVar

Select item 376301015.

rs3763010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:151029150 (GRCh38)
5:150408711 (GRCh37)
Canonical SPDI:: NC_000005.10:151029149:C:A,NC_000005.10:151029149:C:G,NC_000005.10:151029149:C:T
Gene:: GPX3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.267647/91 (SGDP_PRJ)
C=0.289474/11 (Siberian)
C=0.340426/1312 (ALSPAC)
T=0.340614/998 (KOREAN)
C=0.340615/1263 (TWINSUK)
C=0.348697/348 (GoNL)
C=0.35/210 (NorthernSweden)
T=0.354908/5948 (TOMMO)
T=0.361905/76 (Vietnamese)
T=0.372271/682 (Korea1K)
T=0.391162/1959 (1000Genomes)
C=0.409598/1835 (Estonian)
T=0.47941/126895 (TOPMED)
T=0.496396/69419 (GnomAD)
C=0.5/108 (Qatari)
C=0.5/20 (GENOME_DK)
HGVS:: NC_000005.10:g.151029150C>A, NC_000005.10:g.151029150C>G, NC_000005.10:g.151029150C>T, NC_000005.9:g.150408711C>A, NC_000005.9:g.150408711C>G, NC_000005.9:g.150408711C>T, NG_030590.1:g.63511G>T, NG_030590.1:g.63511G>C, NG_030590.1:g.63511G>A

Select item 376301116.

rs3763011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:151025142 (GRCh38)
5:150404703 (GRCh37)
Canonical SPDI:: NC_000005.10:151025141:G:A,NC_000005.10:151025141:G:T
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.134251/2155 (ALFA)
A=0.158333/95 (NorthernSweden)
A=0.171521/636 (TWINSUK)
A=0.179813/693 (ALSPAC)
A=0.209419/209 (GoNL)
A=0.24183/64010 (TOPMED)
A=0.243973/1093 (Estonian)
A=0.261981/164 (Chileans)
A=0.310185/67 (Qatari)
G=0.3125/10 (Siberian)
A=0.325/13 (GENOME_DK)
A=0.337601/1691 (1000Genomes)
A=0.340653/605 (HapMap)
G=0.352349/105 (SGDP_PRJ)
G=0.369966/1084 (KOREAN)
G=0.382157/6405 (TOMMO)
G=0.399563/732 (Korea1K)
G=0.428571/90 (Vietnamese)
HGVS:: NC_000005.10:g.151025142G>A, NC_000005.10:g.151025142G>T, NC_000005.9:g.150404703G>A, NC_000005.9:g.150404703G>T

PubMed LitVar

Select item 376301217.

rs3763012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:151025096 (GRCh38)
5:150404657 (GRCh37)
Canonical SPDI:: NC_000005.10:151025095:G:A,NC_000005.10:151025095:G:T
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.212224/53191 (ALFA)
A=0.156667/94 (NorthernSweden)
A=0.171521/636 (TWINSUK)
A=0.180332/695 (ALSPAC)
A=0.209419/209 (GoNL)
A=0.227676/31866 (GnomAD)
A=0.241554/63937 (TOPMED)
A=0.29682/23355 (PAGE_STUDY)
A=0.310185/67 (Qatari)
G=0.3125/10 (Siberian)
A=0.325/13 (GENOME_DK)
A=0.333333/630 (HapMap)
A=0.337914/1692 (1000Genomes)
G=0.352349/105 (SGDP_PRJ)
G=0.368942/1081 (KOREAN)
G=0.380711/300 (PRJEB37584)
G=0.399563/732 (Korea1K)
G=0.429245/91 (Vietnamese)
HGVS:: NC_000005.10:g.151025096G>A, NC_000005.10:g.151025096G>T, NC_000005.9:g.150404657G>A, NC_000005.9:g.150404657G>T

LitVar

Select item 379279518.

rs3792795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:151024241 (GRCh38)
5:150403802 (GRCh37)
Canonical SPDI:: NC_000005.10:151024240:C:A,NC_000005.10:151024240:C:T
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.083601/17043 (ALFA)
T=0.059678/230 (ALSPAC)
T=0.063107/234 (TWINSUK)
T=0.064815/14 (Qatari)
T=0.068333/41 (NorthernSweden)
T=0.073884/331 (Estonian)
T=0.075/3 (GENOME_DK)
T=0.0751/10531 (GnomAD)
T=0.08517/85 (GoNL)
T=0.090842/24045 (TOPMED)
T=0.155059/777 (1000Genomes)
T=0.155556/14 (PRJEB36033)
T=0.16165/290 (HapMap)
T=0.174121/109 (Chileans)
T=0.18762/391 (HGDP_Stanford)
T=0.3519/5898 (TOMMO)
C=0.384615/60 (SGDP_PRJ)
T=0.400943/85 (Vietnamese)
C=0.409091/9 (Siberian)
T=0.420306/770 (Korea1K)
T=0.43686/1280 (KOREAN)
HGVS:: NC_000005.10:g.151024241C>A, NC_000005.10:g.151024241C>T, NC_000005.9:g.150403802C>A, NC_000005.9:g.150403802C>T

Select item 379279619.

rs3792796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:151022929 (GRCh38)
5:150402490 (GRCh37)
Canonical SPDI:: NC_000005.10:151022928:G:C
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.401149/33808 (ALFA)
G=0.270115/94 (SGDP_PRJ)
G=0.289474/11 (Siberian)
G=0.338188/1254 (TWINSUK)
G=0.341463/1316 (ALSPAC)
G=0.343687/343 (GoNL)
C=0.349367/276 (PRJEB37584)
G=0.35/210 (NorthernSweden)
C=0.354608/1039 (KOREAN)
C=0.369028/6185 (TOMMO)
C=0.38155/699 (Korea1K)
C=0.396098/31165 (PAGE_STUDY)
C=0.396226/84 (Vietnamese)
C=0.402405/2015 (1000Genomes)
G=0.411607/1844 (Estonian)
C=0.430818/137 (HapMap)
C=0.475/19 (GENOME_DK)
C=0.485912/128616 (TOPMED)
G=0.498334/69712 (GnomAD)
G=0.5/108 (Qatari)
HGVS:: NC_000005.10:g.151022929G>C, NC_000005.9:g.150402490G>C, NG_083867.1:g.994G>C

PubMed LitVar

Select item 379279720.

rs3792797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 5:151022330 (GRCh38)
5:150401891 (GRCh37)
Canonical SPDI:: NC_000005.10:151022329:A:C,NC_000005.10:151022329:A:G,NC_000005.10:151022329:A:T
Gene:: GPX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
A=0.028037/6 (Vietnamese)
A=0.048035/88 (Korea1K)
A=0.136273/136 (GoNL)
A=0.155602/2608 (TOMMO)
A=0.15625/80 (SGDP_PRJ)
A=0.159091/14 (PRJEB36033)
A=0.162948/628 (ALSPAC)
A=0.166667/9 (Siberian)
A=0.171521/636 (TWINSUK)
A=0.17567/787 (Estonian)
A=0.206667/124 (NorthernSweden)
A=0.208333/45 (Qatari)
A=0.225/9 (GENOME_DK)
A=0.288976/76489 (TOPMED)
A=0.30278/1516 (1000Genomes)
A=0.325742/615 (HapMap)
HGVS:: NC_000005.10:g.151022330A>C, NC_000005.10:g.151022330A>G, NC_000005.10:g.151022330A>T, NC_000005.9:g.150401891A>C, NC_000005.9:g.150401891A>G, NC_000005.9:g.150401891A>T, NG_083867.1:g.395A>C, NG_083867.1:g.395A>G, NG_083867.1:g.395A>T

PubMed

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