SNP (Cited) for PubMed (Select 17554300) - SNP

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Select item 176967361.

rs17696736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:112049014 (GRCh38)
12:112486818 (GRCh37)
Canonical SPDI:: NC_000012.12:112049013:A:G
Gene:: NAA25 (Varview), LOC124903022 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.410107/144032 (ALFA)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.002525/2 (PRJEB37584)
G=0.134291/673 (1000Genomes)
G=0.14778/11630 (PAGE_STUDY)
G=0.159309/332 (HGDP_Stanford)
G=0.175926/38 (Qatari)
G=0.225152/222 (HapMap)
G=0.244409/153 (Chileans)
G=0.280574/74265 (TOPMED)
G=0.292254/332 (Daghestan)
G=0.30265/42377 (GnomAD)
A=0.377049/46 (SGDP_PRJ)
G=0.398333/239 (NorthernSweden)
G=0.4/16 (GENOME_DK)
G=0.405034/1561 (ALSPAC)
G=0.410822/410 (GoNL)
A=0.428571/6 (Siberian)
G=0.429688/1925 (Estonian)
G=0.43123/1599 (TWINSUK)
A=0.5/12 (PRJEB36033)
HGVS:: NC_000012.12:g.112049014A>G, NC_000012.11:g.112486818A>G, NG_017071.1:g.64818T>C

PubMed LitVar

Select item 176721352.

rs17672135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:240282296 (GRCh38)
1:240445596 (GRCh37)
Canonical SPDI:: NC_000001.11:240282295:T:C
Gene:: FMN2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.113447/23457 (ALFA)
C=0.055556/2 (PRJEB36033)
C=0.05598/44 (PRJEB37584)
C=0.093886/172 (Korea1K)
C=0.098239/7731 (PAGE_STUDY)
C=0.098905/289 (KOREAN)
C=0.100688/26651 (TOPMED)
C=0.105403/199 (HapMap)
C=0.108733/15237 (GnomAD)
C=0.111313/429 (ALSPAC)
C=0.114228/114 (GoNL)
C=0.12028/446 (TWINSUK)
C=0.120706/604 (1000Genomes)
C=0.132812/595 (Estonian)
C=0.134259/29 (Qatari)
C=0.134259/29 (Vietnamese)
C=0.146667/88 (NorthernSweden)
C=0.165775/186 (Daghestan)
C=0.182545/3059 (TOMMO)
C=0.225/9 (GENOME_DK)
T=0.451389/65 (SGDP_PRJ)
T=0.5/5 (Siberian)
HGVS:: NC_000001.11:g.240282296T>C, NC_000001.10:g.240445596T>C, NG_042054.1:g.195412T>C

PubMed LitVar

Select item 174495603.

rs17449560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:31059866 (GRCh38)
14:31529072 (GRCh37)
Canonical SPDI:: NC_000014.9:31059865:G:C
Gene:: AP4S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.09846/1880 (ALFA)
C=0.00463/1 (Vietnamese)
C=0.012329/36 (KOREAN)
C=0.01872/314 (TOMMO)
C=0.081031/21448 (TOPMED)
C=0.086401/12032 (GnomAD)
C=0.087289/437 (1000Genomes)
C=0.08836/167 (HapMap)
C=0.097222/21 (Qatari)
C=0.10302/382 (TWINSUK)
C=0.103333/62 (NorthernSweden)
C=0.104208/104 (GoNL)
C=0.104567/403 (ALSPAC)
C=0.122321/548 (Estonian)
C=0.125/5 (GENOME_DK)
C=0.145246/165 (Daghestan)
G=0.414634/34 (SGDP_PRJ)
G=0.5/8 (Siberian)
HGVS:: NC_000014.9:g.31059866G>C, NC_000014.8:g.31529072G>C, NG_031913.1:g.39761G>C

PubMed LitVar

Select item 173885684.

rs17388568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:122408207 (GRCh38)
4:123329362 (GRCh37)
Canonical SPDI:: NC_000004.12:122408206:G:A
Gene:: ADAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.253688/76453 (ALFA)
A=0.060185/13 (Qatari)
A=0.104395/1750 (TOMMO)
A=0.111321/8761 (PAGE_STUDY)
A=0.111567/326 (KOREAN)
A=0.138351/693 (1000Genomes)
A=0.139831/264 (HapMap)
A=0.157407/34 (Vietnamese)
A=0.158147/99 (Chileans)
A=0.164613/187 (Daghestan)
A=0.175027/46328 (TOPMED)
A=0.179487/14 (PRJEB36033)
A=0.203383/28487 (GnomAD)
A=0.259978/964 (TWINSUK)
A=0.278931/1075 (ALSPAC)
A=0.301603/301 (GoNL)
A=0.335938/1505 (Estonian)
A=0.345/207 (NorthernSweden)
A=0.35/14 (GENOME_DK)
G=0.449275/62 (SGDP_PRJ)
G=0.46875/15 (Siberian)
HGVS:: NC_000004.12:g.122408207G>A, NC_000004.11:g.123329362G>A

PubMed LitVar

Select item 172346575.

rs17234657 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:40401407 (GRCh38)
5:40401509 (GRCh37)
Canonical SPDI:: NC_000005.10:40401406:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.125483/43819 (ALFA)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.042553/4 (PRJEB36033)
G=0.05/2 (GENOME_DK)
G=0.052817/60 (Daghestan)
G=0.068618/143 (HGDP_Stanford)
G=0.06869/43 (Chileans)
G=0.093535/468 (1000Genomes)
G=0.097222/21 (Qatari)
G=0.117087/9215 (PAGE_STUDY)
G=0.132608/35100 (TOPMED)
G=0.134269/134 (GoNL)
G=0.135/81 (NorthernSweden)
G=0.135086/221 (HapMap)
G=0.147608/20671 (GnomAD)
G=0.195312/875 (Estonian)
T=0.375/6 (Siberian)
T=0.461538/36 (SGDP_PRJ)
HGVS:: NC_000005.10:g.40401407T>G, NC_000005.9:g.40401509T>G

PubMed LitVar

Select item 172214176.

rs17221417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:50705671 (GRCh38)
16:50739582 (GRCh37)
Canonical SPDI:: NC_000016.10:50705670:C:G
Gene:: NOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.230969/4363 (ALFA)
G=0.000389/7 (TOMMO)
G=0.000684/2 (KOREAN)
G=0.007576/6 (PRJEB37584)
G=0.013889/3 (Vietnamese)
G=0.112795/8877 (PAGE_STUDY)
G=0.12133/608 (1000Genomes)
G=0.131977/227 (HapMap)
G=0.175926/38 (Qatari)
G=0.190517/50428 (TOPMED)
G=0.199309/27928 (GnomAD)
G=0.229687/1029 (Estonian)
G=0.246914/280 (Daghestan)
G=0.255/153 (NorthernSweden)
G=0.288565/1070 (TWINSUK)
G=0.293721/1132 (ALSPAC)
G=0.336673/336 (GoNL)
G=0.375/15 (GENOME_DK)
C=0.439655/51 (SGDP_PRJ)
C=0.454545/10 (Siberian)
G=0.488372/42 (PRJEB36033)
HGVS:: NC_000016.10:g.50705671C>G, NC_000016.9:g.50739582C>G, NG_007508.1:g.13533C>G, NG_080376.1:g.34C>G

PubMed LitVar

Select item 171664967.

rs17166496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:133293192 (GRCh38)
5:132628884 (GRCh37)
Canonical SPDI:: NC_000005.10:133293191:G:A,NC_000005.10:133293191:G:C
Gene:: FSTL4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.455329/8185 (ALFA)
C=0.171429/36 (Vietnamese)
G=0.264151/28 (PRJEB36033)
C=0.286348/839 (KOREAN)
C=0.29903/5012 (TOMMO)
C=0.323604/255 (PRJEB37584)
G=0.333333/16 (Siberian)
G=0.347953/119 (SGDP_PRJ)
G=0.35/14 (GENOME_DK)
G=0.381607/1415 (TWINSUK)
G=0.388889/84 (Qatari)
G=0.39/234 (NorthernSweden)
G=0.390763/1506 (ALSPAC)
G=0.415832/415 (GoNL)
C=0.427359/806 (HapMap)
G=0.43125/1932 (Estonian)
C=0.441443/2211 (1000Genomes)
G=0.46743/531 (Daghestan)
G=0.470001/65834 (GnomAD)
G=0.479357/126881 (TOPMED)
HGVS:: NC_000005.10:g.133293192G>A, NC_000005.10:g.133293192G>C, NC_000005.9:g.132628884G>A, NC_000005.9:g.132628884G>C

PubMed LitVar

Select item 170363288.

rs17036328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:12348985 (GRCh38)
3:12390484 (GRCh37)
Canonical SPDI:: NC_000003.12:12348984:T:C
Gene:: PPARG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.119957/17791 (ALFA)
C=0.02381/5 (Vietnamese)
C=0.029549/495 (TOMMO)
C=0.052019/152 (KOREAN)
C=0.076923/6 (PRJEB36033)
C=0.087963/19 (Qatari)
C=0.106702/121 (Daghestan)
C=0.109493/406 (TWINSUK)
C=0.11523/115 (GoNL)
C=0.121487/608 (1000Genomes)
C=0.121951/470 (ALSPAC)
C=0.12328/233 (HapMap)
C=0.125/5 (GENOME_DK)
C=0.128333/77 (NorthernSweden)
C=0.131089/34698 (TOPMED)
C=0.132551/10431 (PAGE_STUDY)
C=0.13612/19075 (GnomAD)
C=0.164955/739 (Estonian)
T=0.435484/54 (SGDP_PRJ)
T=0.5/7 (Siberian)
HGVS:: NC_000003.12:g.12348985T>C, NC_000003.11:g.12390484T>C, NG_011749.1:g.66136T>C

PubMed LitVar

Select item 132666349.

rs13266634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:117172544 (GRCh38)
8:118184783 (GRCh37)
Canonical SPDI:: NC_000008.11:117172543:C:A,NC_000008.11:117172543:C:T
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Clinical significance:: risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.290653/101650 (ALFA)
T=0.162037/35 (Qatari)
T=0.207273/16312 (PAGE_STUDY)
T=0.213757/404 (HapMap)
T=0.234183/61986 (TOPMED)
T=0.246565/1235 (1000Genomes)
T=0.256718/535 (HGDP_Stanford)
T=0.266725/303 (Daghestan)
T=0.28/168 (NorthernSweden)
T=0.284644/152 (MGP)
T=0.284887/34542 (ExAC)
T=0.287575/287 (GoNL)
T=0.287774/71769 (GnomAD_exomes)
T=0.297735/1104 (TWINSUK)
T=0.298651/1151 (ALSPAC)
T=0.3/12 (GENOME_DK)
T=0.338839/1518 (Estonian)
T=0.358553/109 (FINRISK)
T=0.372093/32 (PRJEB36033)
T=0.387031/1134 (KOREAN)
C=0.394958/94 (SGDP_PRJ)
T=0.400763/315 (PRJEB37584)
T=0.408843/749 (Korea1K)
T=0.417475/6997 (TOMMO)
C=0.423077/11 (Siberian)
T=0.442997/272 (Vietnamese)
HGVS:: NC_000008.11:g.117172544C>A, NC_000008.11:g.117172544C>T, NC_000008.10:g.118184783C>A, NC_000008.10:g.118184783C>T, NG_016991.1:g.227272C>A, NG_016991.1:g.227272C>T, NM_173851.3:c.973C>A, NM_173851.3:c.973C>T, NM_173851.2:c.973C>A, NM_173851.2:c.973C>T, NM_001172815.3:c.826C>A, NM_001172815.3:c.826C>T, NM_001172815.2:c.826C>A, NM_001172815.2:c.826C>T, NM_001172815.1:c.826C>A, NM_001172815.1:c.826C>T, NM_001172813.2:c.826C>A, NM_001172813.2:c.826C>T, NM_001172813.1:c.826C>A, NM_001172813.1:c.826C>T, NM_001172814.2:c.826C>A, NM_001172814.2:c.826C>T, NM_001172814.1:c.826C>A, NM_001172814.1:c.826C>T, NM_001172811.2:c.826C>A, NM_001172811.2:c.826C>T, NM_001172811.1:c.826C>A, NM_001172811.1:c.826C>T, XM_024447083.2:c.826C>A, XM_024447083.2:c.826C>T, XM_024447083.1:c.826C>A, XM_024447083.1:c.826C>T, NP_776250.2:p.Arg325Trp, NP_001166286.1:p.Arg276Trp, NP_001166284.1:p.Arg276Trp, NP_001166285.1:p.Arg276Trp, NP_001166282.1:p.Arg276Trp, XP_024302851.1:p.Arg276Trp

PubMed LitVar

Select item 1279795110.

rs12797951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:71432220 (GRCh38)
11:71143266 (GRCh37)
Canonical SPDI:: NC_000011.10:71432219:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.321545/50352 (ALFA)
T=0.2/8 (GENOME_DK)
T=0.239482/888 (TWINSUK)
T=0.244489/244 (GoNL)
T=0.246497/950 (ALSPAC)
T=0.288462/15 (Siberian)
G=0.306604/65 (Vietnamese)
G=0.319444/69 (Qatari)
T=0.33427/119 (SGDP_PRJ)
G=0.334631/5608 (TOMMO)
T=0.362946/1626 (Estonian)
G=0.371564/703 (HapMap)
G=0.373908/685 (Korea1K)
T=0.375/225 (NorthernSweden)
G=0.386009/1933 (1000Genomes)
G=0.394198/1155 (KOREAN)
G=0.40625/26 (PRJEB36033)
G=0.422265/880 (HGDP_Stanford)
T=0.43793/61340 (GnomAD)
T=0.45177/119579 (TOPMED)
HGVS:: NC_000011.10:g.71432220T>G, NC_000011.9:g.71143266T>G, NG_012655.2:g.21212A>C

PubMed LitVar

Select item 1270871611.

rs12708716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:11086016 (GRCh38)
16:11179873 (GRCh37)
Canonical SPDI:: NC_000016.10:11086015:A:G
Gene:: CLEC16A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.357777/65685 (ALFA)
G=0.167988/2815 (TOMMO)
G=0.199659/585 (KOREAN)
A=0.212121/14 (PRJEB36033)
G=0.214058/134 (Chileans)
G=0.243655/192 (PRJEB37584)
G=0.287478/326 (Daghestan)
G=0.29/174 (NorthernSweden)
G=0.341683/341 (GoNL)
G=0.346009/1283 (TWINSUK)
G=0.349313/1749 (1000Genomes)
G=0.350248/27561 (PAGE_STUDY)
G=0.353918/1364 (ALSPAC)
G=0.359821/1612 (Estonian)
G=0.366742/97073 (TOPMED)
G=0.371389/52022 (GnomAD)
A=0.372483/111 (SGDP_PRJ)
G=0.375/15 (GENOME_DK)
G=0.377907/715 (HapMap)
A=0.5/10 (Siberian)
A=0.5/108 (Qatari)
HGVS:: NC_000016.10:g.11086016A>G, NC_000016.9:g.11179873A>G, NG_016757.1:g.146529A>G

PubMed LitVar

Select item 1230492112.

rs12304921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:50963759 (GRCh38)
12:51357542 (GRCh37)
Canonical SPDI:: NC_000012.12:50963758:A:G
Gene:: SLC11A2 (Varview), HIGD1C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.172842/36552 (ALFA)
G=0.147789/548 (TWINSUK)
G=0.15/6 (GENOME_DK)
G=0.153307/153 (GoNL)
G=0.153355/96 (Chileans)
G=0.153607/592 (ALSPAC)
G=0.161667/97 (NorthernSweden)
G=0.175547/24598 (GnomAD)
G=0.180169/47689 (TOPMED)
G=0.192188/861 (Estonian)
G=0.213502/16803 (PAGE_STUDY)
G=0.214286/12 (PRJEB36033)
G=0.235915/268 (Daghestan)
G=0.240741/52 (Qatari)
G=0.254841/1276 (1000Genomes)
G=0.257721/484 (HapMap)
A=0.321429/9 (Siberian)
A=0.403846/105 (SGDP_PRJ)
G=0.490741/106 (Vietnamese)
G=0.491809/1441 (KOREAN)
A=0.49345/904 (Korea1K)
G=0.495364/8302 (TOMMO)
A=0.498737/395 (PRJEB37584)
HGVS:: NC_000012.12:g.50963759A>G, NC_000012.11:g.51357542A>G

PubMed

Select item 1229552513.

rs12295525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:19683686 (GRCh38)
11:19705232 (GRCh37)
Canonical SPDI:: NC_000011.10:19683685:C:G,NC_000011.10:19683685:C:T
Gene:: NAV2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.056346/1323 (ALFA)
T=0.001092/2 (Korea1K)
T=0.001369/4 (KOREAN)
T=0.003256/55 (TOMMO)
T=0.079241/355 (Estonian)
T=0.08517/85 (GoNL)
T=0.091667/55 (NorthernSweden)
T=0.091694/340 (TWINSUK)
T=0.099637/384 (ALSPAC)
T=0.110712/554 (1000Genomes)
T=0.112388/29748 (TOPMED)
T=0.15/6 (GENOME_DK)
T=0.161311/251 (HapMap)
T=0.199074/43 (Qatari)
C=0.447917/43 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000011.10:g.19683686C>G, NC_000011.10:g.19683686C>T, NC_000011.9:g.19705232C>G, NC_000011.9:g.19705232C>T, NG_030347.1:g.337962C>G, NG_030347.1:g.337962C>T

PubMed LitVar

Select item 1203760614.

rs12037606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:172929262 (GRCh38)
1:172898402 (GRCh37)
Canonical SPDI:: NC_000001.11:172929261:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.444783/74833 (ALFA)
G=0.041124/689 (TOMMO)
G=0.048123/141 (KOREAN)
G=0.055696/44 (PRJEB37584)
G=0.128571/27 (Vietnamese)
G=0.221277/104 (SGDP_PRJ)
G=0.28/14 (Siberian)
A=0.3/12 (GENOME_DK)
G=0.319577/604 (HapMap)
G=0.340699/26813 (PAGE_STUDY)
G=0.342593/74 (Qatari)
G=0.346034/1733 (1000Genomes)
A=0.375752/375 (GoNL)
A=0.389465/1501 (ALSPAC)
A=0.399107/1788 (Estonian)
A=0.401294/1488 (TWINSUK)
A=0.421667/253 (NorthernSweden)
G=0.456001/120699 (TOPMED)
G=0.48271/67423 (GnomAD)
A=0.487676/554 (Daghestan)
HGVS:: NC_000001.11:g.172929262G>A, NC_000001.10:g.172898402G>A

PubMed LitVar

Select item 1180530315.

rs11805303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:67209833 (GRCh38)
1:67675516 (GRCh37)
Canonical SPDI:: NC_000001.11:67209832:C:A,NC_000001.11:67209832:C:T
Gene:: IL23R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.305911/85121 (ALFA)
T=0.133333/8 (PRJEB36033)
T=0.20607/129 (Chileans)
T=0.254509/254 (GoNL)
T=0.266667/160 (NorthernSweden)
T=0.273438/1225 (Estonian)
T=0.292562/40964 (GnomAD)
T=0.293445/23080 (PAGE_STUDY)
T=0.293785/77762 (TOPMED)
T=0.298132/1149 (ALSPAC)
T=0.309331/1147 (TWINSUK)
T=0.347222/75 (Qatari)
C=0.359756/118 (SGDP_PRJ)
T=0.370862/1857 (1000Genomes)
T=0.375/15 (GENOME_DK)
T=0.377119/712 (HapMap)
C=0.428571/12 (Siberian)
T=0.438053/495 (Daghestan)
C=0.440614/1291 (KOREAN)
C=0.447052/819 (Korea1K)
C=0.458333/341 (PRJEB37584)
C=0.459693/7704 (TOMMO)
C=0.5/108 (Vietnamese)
HGVS:: NC_000001.11:g.67209833C>A, NC_000001.11:g.67209833C>T, NC_000001.10:g.67675516C>A, NC_000001.10:g.67675516C>T, NG_011498.1:g.48348C>A, NG_011498.1:g.48348C>T

PubMed LitVar

Select item 1179040816.

rs11790408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:876418 (GRCh38)
9:876418 (GRCh37)
Canonical SPDI:: NC_000009.12:876417:G:T
Gene:: DMRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.311105/8864 (ALFA)
T=0.233333/441 (HapMap)
T=0.242973/1217 (1000Genomes)
T=0.269625/790 (KOREAN)
T=0.276201/506 (Korea1K)
T=0.277778/60 (Vietnamese)
T=0.294862/78047 (TOPMED)
T=0.301473/42190 (GnomAD)
T=0.302357/5068 (TOMMO)
T=0.325/13 (GENOME_DK)
T=0.327476/205 (Chileans)
T=0.333259/1493 (Estonian)
T=0.345745/390 (Daghestan)
G=0.348/87 (SGDP_PRJ)
T=0.356481/77 (Qatari)
T=0.388333/233 (NorthernSweden)
T=0.395792/395 (GoNL)
T=0.409924/1520 (TWINSUK)
T=0.413856/1595 (ALSPAC)
G=0.5/18 (Siberian)
HGVS:: NC_000009.12:g.876418G>T, NC_000009.11:g.876418G>T, NG_009221.1:g.39729G>T

PubMed LitVar

Select item 1176123117.

rs11761231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:131685280 (GRCh38)
7:131370039 (GRCh37)
Canonical SPDI:: NC_000007.14:131685279:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.358385/105829 (ALFA)
C=0.162037/35 (Vietnamese)
T=0.229167/11 (Siberian)
C=0.253181/199 (PRJEB37584)
T=0.263761/115 (SGDP_PRJ)
C=0.269625/790 (KOREAN)
C=0.272595/4568 (TOMMO)
T=0.282407/61 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.318973/1429 (Estonian)
T=0.321174/361 (Daghestan)
T=0.335951/47052 (GnomAD)
T=0.344689/344 (GoNL)
T=0.346375/91682 (TOPMED)
T=0.350593/1300 (TWINSUK)
T=0.35781/1379 (ALSPAC)
T=0.37/222 (NorthernSweden)
T=0.38779/30516 (PAGE_STUDY)
T=0.393122/743 (HapMap)
T=0.421053/16 (PRJEB36033)
T=0.429107/2149 (1000Genomes)
C=0.43131/270 (Chileans)
HGVS:: NC_000007.14:g.131685280T>C, NC_000007.13:g.131370039T>C

PubMed LitVar

Select item 1162247518.

rs11622475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:104042739 (GRCh38)
14:104509076 (GRCh37)
Canonical SPDI:: NC_000014.9:104042738:C:T
Gene:: TDRD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.285015/60776 (ALFA)
T=0.180472/14201 (PAGE_STUDY)
T=0.201389/377 (HapMap)
T=0.220298/30832 (GnomAD)
T=0.221081/58518 (TOPMED)
T=0.225/9 (GENOME_DK)
T=0.24188/1211 (1000Genomes)
T=0.252901/741 (KOREAN)
T=0.253994/159 (Chileans)
T=0.254717/54 (Vietnamese)
T=0.2631/482 (Korea1K)
T=0.280769/219 (PRJEB37584)
T=0.289914/1075 (TWINSUK)
T=0.297261/4982 (TOMMO)
T=0.3/180 (NorthernSweden)
T=0.305916/1179 (ALSPAC)
T=0.316295/1417 (Estonian)
T=0.319444/69 (Qatari)
T=0.339539/383 (Daghestan)
C=0.363309/101 (SGDP_PRJ)
T=0.409091/36 (PRJEB36033)
C=0.5/11 (Siberian)
HGVS:: NC_000014.9:g.104042739C>T, NC_000014.8:g.104509076C>T

PubMed

Select item 1157130019.

rs11571300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:203882044 (GRCh38)
2:204746767 (GRCh37)
Canonical SPDI:: NC_000002.12:203882043:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.134208/17644 (ALFA)
G=0.075328/138 (Korea1K)
G=0.0859/251 (KOREAN)
G=0.086161/386 (Estonian)
G=0.089586/160 (HapMap)
G=0.093333/56 (NorthernSweden)
G=0.103634/27431 (TOPMED)
G=0.103945/14564 (GnomAD)
G=0.107589/539 (1000Genomes)
G=0.114206/1914 (TOMMO)
G=0.116402/132 (Daghestan)
G=0.140374/541 (ALSPAC)
G=0.143519/31 (Qatari)
G=0.147295/147 (GoNL)
G=0.15/6 (GENOME_DK)
G=0.150755/559 (TWINSUK)
G=0.171296/37 (Vietnamese)
G=0.252396/158 (Chileans)
A=0.442623/54 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000002.12:g.203882044A>G, NC_000002.11:g.204746767A>G

PubMed LitVar

Select item 1120902620.

rs11209026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67240275 (GRCh38)
1:67705958 (GRCh37)
Canonical SPDI:: NC_000001.11:67240274:G:A
Gene:: IL23R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,protective
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.06144/23048 (ALFA)
A=0.023735/119 (1000Genomes)
A=0.025024/52 (HGDP_Stanford)
A=0.025896/2038 (PAGE_STUDY)
A=0.030679/47 (HapMap)
A=0.039474/12 (FINRISK)
A=0.04/24 (NorthernSweden)
A=0.041534/26 (Chileans)
A=0.041667/9 (Qatari)
A=0.042204/10589 (GnomAD_exomes)
A=0.042212/5021 (ExAC)
A=0.044014/50 (Daghestan)
A=0.045007/11913 (TOPMED)
A=0.046759/6551 (GnomAD)
A=0.046816/25 (MGP)
A=0.05/2 (GENOME_DK)
A=0.05558/249 (Estonian)
A=0.063107/234 (TWINSUK)
A=0.070576/272 (ALSPAC)
A=0.07515/75 (GoNL)
A=0.176471/6 (PRJEB36033)
G=0.454545/10 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000001.11:g.67240275G>A, NC_000001.10:g.67705958G>A, NG_011498.1:g.78790G>A, NM_144701.3:c.1142G>A, NM_144701.2:c.1142G>A, XM_011540790.4:c.1142G>A, XM_011540790.3:c.1142G>A, XM_011540790.2:c.1142G>A, XM_011540790.1:c.1142G>A, XM_011540791.4:c.1142G>A, XM_011540791.3:c.1142G>A, XM_011540791.2:c.1142G>A, XM_011540791.1:c.1142G>A, XM_047447227.1:c.1142G>A, NP_653302.2:p.Arg381Gln, XP_011539092.1:p.Arg381Gln, XP_011539093.1:p.Arg381Gln, XP_047303183.1:p.Arg381Gln

PubMed LitVar

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