SNP Links for PMC (Select 3015094) - SNP

Links from PMC

Items: 20

Select item 104991941.

rs10499194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:137681500 (GRCh38)
6:138002637 (GRCh37)
Canonical SPDI:: NC_000006.12:137681499:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.260543/32558 (ALFA)
T=0.062773/115 (Korea1K)
T=0.067202/1899 (TOMMO)
T=0.125/41 (HapMap)
T=0.191911/1229 (1000Genomes)
T=0.204178/16068 (PAGE_STUDY)
T=0.238113/33203 (GnomAD)
T=0.241618/63954 (TOPMED)
HGVS:: NC_000006.12:g.137681500C>T, NC_000006.11:g.138002637C>T

PubMed LitVar

Select item 75748652.

rs7574865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:191099907 (GRCh38)
2:191964633 (GRCh37)
Canonical SPDI:: NC_000002.12:191099906:T:A,NC_000002.12:191099906:T:G
Gene:: STAT4 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.227592/74064 (ALFA)
T=0.115385/6 (PRJEB36033)
T=0.195652/9 (Siberian)
T=0.203571/912 (Estonian)
T=0.208662/29214 (GnomAD)
T=0.21739/57541 (TOPMED)
T=0.222626/858 (ALSPAC)
T=0.225/9 (GENOME_DK)
T=0.225728/837 (TWINSUK)
T=0.231481/50 (Qatari)
T=0.235559/18538 (PAGE_STUDY)
T=0.238776/117 (SGDP_PRJ)
T=0.24307/456 (HapMap)
T=0.250501/250 (GoNL)
T=0.250781/1256 (1000Genomes)
T=0.286667/172 (NorthernSweden)
T=0.296296/64 (Vietnamese)
T=0.301937/343 (Daghestan)
T=0.314721/248 (PRJEB37584)
T=0.324012/672 (HGDP_Stanford)
T=0.329352/965 (KOREAN)
T=0.333911/5596 (TOMMO)
HGVS:: NC_000002.12:g.191099907T>A, NC_000002.12:g.191099907T>G, NC_000002.11:g.191964633T>A, NC_000002.11:g.191964633T>G, NG_012852.1:g.56293A>T, NG_012852.1:g.56293A>C

PubMed LitVar

Select item 69722193.

rs6972219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:45859760 (GRCh38)
7:45899359 (GRCh37)
Canonical SPDI:: NC_000007.14:45859759:C:A,NC_000007.14:45859759:C:T
Gene:: CCDC201 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.031698/1820 (ALFA)
T=0.013333/8 (NorthernSweden)
T=0.025688/99 (ALSPAC)
T=0.02589/96 (TWINSUK)
T=0.026339/118 (Estonian)
T=0.028056/28 (GoNL)
T=0.046758/137 (KOREAN)
T=0.046783/784 (TOMMO)
T=0.055677/102 (Korea1K)
T=0.070841/18751 (TOPMED)
T=0.073171/24 (HapMap)
T=0.078704/17 (Qatari)
T=0.079439/17 (Vietnamese)
T=0.093379/468 (1000Genomes)
C=0.47561/39 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000007.14:g.45859760C>A, NC_000007.14:g.45859760C>T, NC_000007.13:g.45899359C>A, NC_000007.13:g.45899359C>T

PubMed LitVar

Select item 69567404.

rs6956740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:45864208 (GRCh38)
7:45903807 (GRCh37)
Canonical SPDI:: NC_000007.14:45864207:C:A,NC_000007.14:45864207:C:G,NC_000007.14:45864207:C:T
Gene:: CCDC201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (PRJEB36033)
T=0.01333/8 (NorthernSweden)
T=0.02387/92 (ALSPAC)
T=0.02454/91 (TWINSUK)
T=0.02567/115 (Estonian)
T=0.02605/26 (GoNL)
T=0.04671/783 (TOMMO)
T=0.04676/137 (KOREAN)
T=0.05568/102 (Korea1K)
T=0.07055/23 (HapMap)
T=0.0787/17 (Qatari)
T=0.09478/475 (1000Genomes)
C=0.47561/39 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000007.14:g.45864208C>A, NC_000007.14:g.45864208C>G, NC_000007.14:g.45864208C>T, NC_000007.13:g.45903807C>A, NC_000007.13:g.45903807C>G, NC_000007.13:g.45903807C>T

PubMed

Select item 69202205.

rs6920220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:137685367 (GRCh38)
6:138006504 (GRCh37)
Canonical SPDI:: NC_000006.12:137685366:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.190012/53702 (ALFA)
A=0.000546/1 (Korea1K)
A=0.000779/13 (TOMMO)
A=0.003765/11 (KOREAN)
A=0.097222/21 (Qatari)
A=0.099157/497 (1000Genomes)
A=0.106206/8358 (PAGE_STUDY)
A=0.113831/186 (HapMap)
A=0.12/6 (PRJEB36033)
A=0.121406/76 (Chileans)
A=0.140459/159 (Daghestan)
A=0.152129/40267 (TOPMED)
A=0.161922/22670 (GnomAD)
A=0.185371/185 (GoNL)
A=0.2/120 (NorthernSweden)
A=0.202232/906 (Estonian)
A=0.216658/835 (ALSPAC)
A=0.221683/822 (TWINSUK)
A=0.3/12 (GENOME_DK)
G=0.4375/7 (Siberian)
G=0.469388/46 (SGDP_PRJ)
HGVS:: NC_000006.12:g.137685367G>A, NC_000006.11:g.138006504G>A

PubMed LitVar

Select item 64481196.

rs6448119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:22089761 (GRCh38)
4:22091384 (GRCh37)
Canonical SPDI:: NC_000004.12:22089760:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.245143/49210 (ALFA)
T=0.1875/6 (PRJEB36033)
T=0.18942/555 (KOREAN)
T=0.203283/161 (PRJEB37584)
T=0.207424/380 (Korea1K)
T=0.213816/3584 (TOMMO)
T=0.216667/130 (NorthernSweden)
T=0.219512/846 (ALSPAC)
T=0.224649/833 (TWINSUK)
T=0.237475/237 (GoNL)
T=0.248924/34828 (GnomAD)
T=0.25/54 (Qatari)
T=0.251852/476 (HapMap)
T=0.25494/67480 (TOPMED)
T=0.260937/1169 (Estonian)
T=0.277014/1387 (1000Genomes)
T=0.293186/611 (HGDP_Stanford)
C=0.321429/9 (Siberian)
T=0.35/14 (GENOME_DK)
T=0.351852/76 (Vietnamese)
C=0.370748/109 (SGDP_PRJ)
HGVS:: NC_000004.12:g.22089761C>T, NC_000004.11:g.22091384C>T

PubMed

Select item 48104857.

rs4810485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 20:46119308 (GRCh38)
20:44747947 (GRCh37)
Canonical SPDI:: NC_000020.11:46119307:T:A,NC_000020.11:46119307:T:G
Gene:: CD40 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.259677/55134 (ALFA)
T=0.043478/2 (PRJEB36033)
T=0.16/8 (Siberian)
T=0.164751/86 (SGDP_PRJ)
T=0.180624/14214 (PAGE_STUDY)
T=0.204269/54068 (TOPMED)
T=0.208179/29175 (GnomAD)
T=0.215/129 (NorthernSweden)
T=0.215848/967 (Estonian)
T=0.226355/426 (HapMap)
T=0.231418/1159 (1000Genomes)
T=0.233005/898 (ALSPAC)
T=0.234469/234 (GoNL)
T=0.243528/903 (TWINSUK)
T=0.25/10 (GENOME_DK)
T=0.259259/56 (Qatari)
T=0.334607/613 (Korea1K)
T=0.354608/1039 (KOREAN)
T=0.392774/6583 (TOMMO)
G=0.490566/104 (Vietnamese)
HGVS:: NC_000020.11:g.46119308T>A, NC_000020.11:g.46119308T>G, NC_000020.10:g.44747947T>A, NC_000020.10:g.44747947T>G, NG_007279.1:g.6042T>A, NG_007279.1:g.6042T>G

PubMed

Select item 47503168.

rs4750316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:6351298 (GRCh38)
10:6393260 (GRCh37)
Canonical SPDI:: NC_000010.11:6351297:C:G,NC_000010.11:6351297:C:T
Gene:: LINC02656 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.194812/16213 (ALFA)
C=0.071429/4 (Siberian)
C=0.089873/71 (PRJEB37584)
C=0.090476/19 (Vietnamese)
C=0.105119/308 (KOREAN)
C=0.114481/1919 (TOMMO)
C=0.12963/28 (Qatari)
C=0.143969/74 (SGDP_PRJ)
C=0.146667/88 (NorthernSweden)
C=0.175/7 (GENOME_DK)
C=0.179612/666 (TWINSUK)
C=0.188116/725 (ALSPAC)
C=0.188616/845 (Estonian)
C=0.200401/200 (GoNL)
C=0.215168/244 (Daghestan)
C=0.221893/1111 (1000Genomes)
C=0.238196/63048 (TOPMED)
C=0.240355/33628 (GnomAD)
C=0.255089/20074 (PAGE_STUDY)
C=0.259259/14 (PRJEB36033)
C=0.28254/534 (HapMap)
HGVS:: NC_000010.11:g.6351298C>G, NC_000010.11:g.6351298C>T, NC_000010.10:g.6393260C>G, NC_000010.10:g.6393260C>T, NR_148966.1:n.983C>G, NR_148966.1:n.983C>T

PubMed LitVar

Select item 43053179.

rs4305317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 2:41853484 (GRCh38)
2:42080624 (GRCh37)
Canonical SPDI:: NC_000002.12:41853483:T:A,NC_000002.12:41853483:T:C,NC_000002.12:41853483:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.462315/135794 (ALFA)
C=0./0 (KOREAN)
T=0.305556/11 (Siberian)
T=0.317259/125 (SGDP_PRJ)
T=0.358624/6011 (TOMMO)
G=0.406667/244 (NorthernSweden)
T=0.411765/322 (PRJEB37584)
T=0.41321/757 (Korea1K)
T=0.415888/89 (Vietnamese)
G=0.41808/1873 (Estonian)
G=0.45/18 (GENOME_DK)
T=0.45098/46 (PRJEB36033)
G=0.462963/100 (Qatari)
G=0.470977/124663 (TOPMED)
G=0.480444/37809 (PAGE_STUDY)
G=0.483581/913 (HapMap)
T=0.494066/2474 (1000Genomes)
G=0.496994/496 (GoNL)
T=0.498081/1038 (HGDP_Stanford)
HGVS:: NC_000002.12:g.41853484T>A, NC_000002.12:g.41853484T>C, NC_000002.12:g.41853484T>G, NC_000002.11:g.42080624T>A, NC_000002.11:g.42080624T>C, NC_000002.11:g.42080624T>G

PubMed LitVar

Select item 389074510.

rs3890745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:2622185 (GRCh38)
1:2553624 (GRCh37)
Canonical SPDI:: NC_000001.11:2622184:T:C
Gene:: MMEL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.333398/112399 (ALFA)
C=0.204545/18 (PRJEB36033)
C=0.225/9 (GENOME_DK)
T=0.288557/116 (SGDP_PRJ)
C=0.301603/301 (GoNL)
T=0.3125/10 (Siberian)
C=0.320089/1434 (Estonian)
C=0.331604/1278 (ALSPAC)
C=0.334951/1242 (TWINSUK)
C=0.377208/427 (Daghestan)
C=0.383333/230 (NorthernSweden)
C=0.400675/56117 (GnomAD)
C=0.407741/107925 (TOPMED)
C=0.435185/94 (Qatari)
C=0.443925/95 (Vietnamese)
C=0.444818/927 (HGDP_Stanford)
C=0.445392/1305 (KOREAN)
C=0.445687/279 (Chileans)
C=0.458886/346 (PRJEB37584)
C=0.474877/37370 (PAGE_STUDY)
C=0.482558/913 (HapMap)
C=0.489225/2450 (1000Genomes)
C=0.494904/8295 (TOMMO)
HGVS:: NC_000001.11:g.2622185T>C, NC_000001.10:g.2553624T>C, NT_187515.1:g.173375T>C

PubMed

Select item 380730611.

rs3807306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:128940626 (GRCh38)
7:128580680 (GRCh37)
Canonical SPDI:: NC_000007.14:128940625:G:A,NC_000007.14:128940625:G:C,NC_000007.14:128940625:G:T
Gene:: IRF5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.469887/83606 (ALFA)
T=0.187342/148 (PRJEB37584)
T=0.221311/648 (KOREAN)
T=0.238537/437 (Korea1K)
T=0.244408/4095 (TOMMO)
T=0.332799/623 (HapMap)
T=0.344941/1727 (1000Genomes)
T=0.354888/27924 (PAGE_STUDY)
G=0.361111/13 (Siberian)
G=0.36478/116 (SGDP_PRJ)
T=0.408163/40 (PRJEB36033)
T=0.420533/111311 (TOPMED)
T=0.45/18 (GENOME_DK)
T=0.472991/2119 (Estonian)
T=0.480043/1780 (TWINSUK)
T=0.486111/105 (Qatari)
T=0.486667/292 (NorthernSweden)
T=0.488064/1881 (ALSPAC)
T=0.48998/489 (GoNL)
HGVS:: NC_000007.14:g.128940626G>A, NC_000007.14:g.128940626G>C, NC_000007.14:g.128940626G>T, NC_000007.13:g.128580680G>A, NC_000007.13:g.128580680G>C, NC_000007.13:g.128580680G>T, NG_012306.2:g.8596G>A, NG_012306.2:g.8596G>C, NG_012306.2:g.8596G>T, NG_012306.1:g.7687G>A, NG_012306.1:g.7687G>C, NG_012306.1:g.7687G>T, XM_011516159.4:c.-777G>A, XM_011516159.4:c.-777G>C, XM_011516159.4:c.-777G>T

PubMed LitVar

Select item 376184712.

rs3761847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:120927961 (GRCh38)
9:123690239 (GRCh37)
Canonical SPDI:: NC_000009.12:120927960:G:A,NC_000009.12:120927960:G:C
Gene:: TRAF1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.426435/130398 (ALFA)
G=0.270925/123 (SGDP_PRJ)
G=0.295455/26 (PRJEB36033)
G=0.357143/15 (Siberian)
G=0.381478/795 (HGDP_Stanford)
G=0.388889/84 (Qatari)
A=0.4/16 (GENOME_DK)
G=0.420343/1620 (ALSPAC)
G=0.435275/1614 (TWINSUK)
G=0.4375/91 (Vietnamese)
G=0.450902/450 (GoNL)
G=0.458333/363 (PRJEB37584)
G=0.4594/2301 (1000Genomes)
G=0.466667/280 (NorthernSweden)
A=0.474344/7950 (TOMMO)
G=0.474786/125671 (TOPMED)
G=0.479478/67031 (GnomAD)
G=0.482366/2161 (Estonian)
A=0.485729/919 (HapMap)
G=0.490102/1436 (KOREAN)
G=0.492719/38774 (PAGE_STUDY)
G=0.5/916 (Korea1K)
HGVS:: NC_000009.12:g.120927961G>A, NC_000009.12:g.120927961G>C, NC_000009.11:g.123690239G>A, NC_000009.11:g.123690239G>C, NG_023346.1:g.6213C>T, NG_023346.1:g.6213C>G

PubMed LitVar

Select item 308724313.

rs3087243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:203874196 (GRCh38)
2:204738919 (GRCh37)
Canonical SPDI:: NC_000002.12:203874195:G:A,NC_000002.12:203874195:G:T
Gene:: CTLA4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Clinical significance:: protective,benign,risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.436604/119220 (ALFA)
A=0.162664/298 (Korea1K)
A=0.169405/495 (KOREAN)
A=0.173858/137 (PRJEB37584)
A=0.270491/4533 (TOMMO)
A=0.305497/578 (HapMap)
A=0.306604/65 (Vietnamese)
A=0.329996/25970 (PAGE_STUDY)
G=0.333333/6 (PRJEB36033)
G=0.342424/113 (SGDP_PRJ)
A=0.361227/50579 (GnomAD)
A=0.361805/1812 (1000Genomes)
A=0.365662/96787 (TOPMED)
A=0.375/225 (NorthernSweden)
A=0.386161/1730 (Estonian)
A=0.4/16 (GENOME_DK)
A=0.450441/1736 (ALSPAC)
G=0.453704/98 (Qatari)
G=0.454545/10 (Siberian)
A=0.455232/1688 (TWINSUK)
A=0.456914/456 (GoNL)
G=0.473592/538 (Daghestan)
HGVS:: NC_000002.12:g.203874196G>A, NC_000002.12:g.203874196G>T, NC_000002.11:g.204738919G>A, NC_000002.11:g.204738919G>T, NG_011502.1:g.11411G>A, NG_011502.1:g.11411G>T

PubMed LitVar

Select item 296166314.

rs2961663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:178186543 (GRCh38)
5:177613544 (GRCh37)
Canonical SPDI:: NC_000005.10:178186542:C:A,NC_000005.10:178186542:C:G,NC_000005.10:178186542:C:T
Gene:: GMCL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (PRJEB36033)
T=0.005051/4 (PRJEB37584)
T=0.013646/25 (Korea1K)
T=0.014019/3 (Vietnamese)
T=0.018138/53 (KOREAN)
T=0.071166/1193 (TOMMO)
T=0.078365/163 (HGDP_Stanford)
T=0.083333/18 (Qatari)
T=0.100054/371 (TWINSUK)
T=0.102996/55 (MGP)
T=0.106212/106 (GoNL)
T=0.109756/423 (ALSPAC)
T=0.111649/559 (1000Genomes)
T=0.123884/555 (Estonian)
T=0.125/5 (GENOME_DK)
T=0.132945/251 (HapMap)
T=0.136851/36223 (TOPMED)
T=0.138333/83 (NorthernSweden)
T=0.141277/19792 (GnomAD)
C=0.482759/28 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000005.10:g.178186543C>A, NC_000005.10:g.178186543C>G, NC_000005.10:g.178186543C>T, NC_000005.9:g.177613544C>A, NC_000005.9:g.177613544C>G, NC_000005.9:g.177613544C>T, NM_022471.2:c.757G>T, NM_022471.2:c.757G>C, NM_022471.2:c.757G>A, NM_001358008.2:c.757G>T, NM_001358008.2:c.757G>C, NM_001358008.2:c.757G>A, NM_001358008.1:c.757G>T, NM_001358008.1:c.757G>C, NM_001358008.1:c.757G>A, NR_003281.1:n.890G>T, NR_003281.1:n.890G>C, NR_003281.1:n.890G>A, NP_001344937.1:p.Gly253Cys, NP_001344937.1:p.Gly253Arg, NP_001344937.1:p.Gly253Ser

PubMed LitVar

Select item 281237815.

rs2812378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:34710263 (GRCh38)
9:34710260 (GRCh37)
Canonical SPDI:: NC_000009.12:34710262:G:A,NC_000009.12:34710262:G:C
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.329891/49962 (ALFA)
G=0.041121/689 (TOMMO)
G=0.055696/44 (PRJEB37584)
G=0.059498/109 (Korea1K)
G=0.064164/188 (KOREAN)
G=0.111111/6 (Siberian)
G=0.132075/28 (Vietnamese)
G=0.16/8 (PRJEB36033)
G=0.164609/80 (SGDP_PRJ)
G=0.229583/253 (HapMap)
G=0.285938/1281 (Estonian)
G=0.291667/63 (Qatari)
G=0.30965/1551 (1000Genomes)
G=0.311837/353 (Daghestan)
G=0.316433/24902 (PAGE_STUDY)
G=0.319639/319 (GoNL)
G=0.338864/89694 (TOPMED)
G=0.339033/47470 (GnomAD)
G=0.341424/1266 (TWINSUK)
G=0.34328/1323 (ALSPAC)
G=0.351667/211 (NorthernSweden)
G=0.375/15 (GENOME_DK)
HGVS:: NC_000009.12:g.34710263G>A, NC_000009.12:g.34710263G>C, NC_000009.11:g.34710260G>A, NC_000009.11:g.34710260G>C

PubMed LitVar

Select item 247660116.

rs2476601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:113834946 (GRCh38)
1:114377568 (GRCh37)
Canonical SPDI:: NC_000001.11:113834945:A:G,NC_000001.11:113834945:A:T
Gene:: PTPN22 (Varview), AP4B1-AS1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: risk-factor,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.085819/27305 (ALFA)
A=0./0 (Korea1K)
A=0./0 (TOMMO)
A=0./0 (Vietnamese)
A=0.000683/2 (KOREAN)
A=0.015835/33 (HGDP_Stanford)
A=0.016129/9 (SGDP_PRJ)
A=0.023148/5 (Qatari)
A=0.025323/1993 (PAGE_STUDY)
A=0.029357/147 (1000Genomes)
A=0.030108/56 (HapMap)
A=0.035273/40 (Daghestan)
A=0.053571/3 (Siberian)
A=0.055767/14761 (TOPMED)
A=0.066843/8115 (ExAC)
A=0.068394/9585 (GnomAD)
A=0.069767/6 (PRJEB36033)
A=0.071083/15583 (GnomAD_exomes)
A=0.088015/47 (MGP)
A=0.098196/98 (GoNL)
A=0.1/4 (GENOME_DK)
A=0.100934/389 (ALSPAC)
A=0.102751/381 (TWINSUK)
A=0.115/69 (NorthernSweden)
A=0.138158/42 (FINRISK)
A=0.143304/642 (Estonian)
HGVS:: NC_000001.11:g.113834946A>G, NC_000001.11:g.113834946A>T, NC_000001.10:g.114377568A>G, NC_000001.10:g.114377568A>T, NG_011432.1:g.41808C>T, NG_011432.1:g.41808C>A, NM_015967.8:c.1858T>C, NM_015967.8:c.1858T>A, NM_015967.7:c.1858C>T, NM_015967.7:c.1858C>A, NM_015967.6:c.1858C>T, NM_015967.6:c.1858C>A, NM_015967.5:c.1858C>T, NM_015967.5:c.1858C>A, NM_012411.5:c.1693C>T, NM_012411.5:c.1693C>A, NM_012411.4:c.1693C>T, NM_012411.4:c.1693C>A, NM_001193431.2:c.1858C>T, NM_001193431.2:c.1858C>A, NM_001193431.1:c.1858C>T, NM_001193431.1:c.1858C>A, NM_001308297.1:c.1786C>T, NM_001308297.1:c.1786C>A, XM_011541223.3:c.1858T>C, XM_011541223.3:c.1858T>A, XM_011541223.2:c.1858T>C, XM_011541223.2:c.1858T>A, XM_011541223.1:c.1858T>C, XM_011541223.1:c.1858T>A, XM_011541225.3:c.1786T>C, XM_011541225.3:c.1786T>A, XM_011541225.2:c.1786T>C, XM_011541225.2:c.1786T>A, XM_011541225.1:c.1786T>C, XM_011541225.1:c.1786T>A, XM_017001005.3:c.1513T>C, XM_017001005.3:c.1513T>A, XM_017001005.2:c.1513T>C, XM_017001005.2:c.1513T>A, XM_017001005.1:c.1513T>C, XM_017001005.1:c.1513T>A, XM_011541222.2:c.1858T>C, XM_011541222.2:c.1858T>A, XM_011541222.1:c.1858T>C, XM_011541222.1:c.1858T>A, XM_011541221.2:c.1780T>C, XM_011541221.2:c.1780T>A, XM_011541221.1:c.1780T>C, XM_011541221.1:c.1780T>A, XM_047417630.1:c.1708T>C, XM_047417630.1:c.1708T>A, XM_047417631.1:c.1786T>C, XM_047417631.1:c.1786T>A, XM_047417632.1:c.1780T>C, XM_047417632.1:c.1780T>A, NP_057051.4:p.Trp620Arg, NP_057051.4:p.Trp620Arg, NP_036543.4:p.Arg565Trp, NP_001180360.1:p.Arg620Trp, NP_001295226.1:p.Arg596Trp, XP_011539525.1:p.Trp620Arg, XP_011539525.1:p.Trp620Arg, XP_011539527.1:p.Trp596Arg, XP_011539527.1:p.Trp596Arg, XP_016856494.1:p.Trp505Arg, XP_016856494.1:p.Trp505Arg, XP_011539524.1:p.Trp620Arg, XP_011539524.1:p.Trp620Arg, XP_011539523.1:p.Trp594Arg, XP_011539523.1:p.Trp594Arg, XP_047273586.1:p.Trp570Arg, XP_047273586.1:p.Trp570Arg, XP_047273587.1:p.Trp596Arg, XP_047273587.1:p.Trp596Arg, XP_047273588.1:p.Trp594Arg, XP_047273588.1:p.Trp594Arg

PubMed LitVar

Select item 217303517.

rs2173035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45861950 (GRCh38)
7:45901549 (GRCh37)
Canonical SPDI:: NC_000007.14:45861949:G:A
Gene:: CCDC201 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.038878/5811 (ALFA)
A=0./0 (PRJEB36033)
A=0.013333/8 (NorthernSweden)
A=0.023871/92 (ALSPAC)
A=0.024542/91 (TWINSUK)
A=0.02567/115 (Estonian)
A=0.026052/26 (GoNL)
A=0.046416/136 (KOREAN)
A=0.046925/786 (TOMMO)
A=0.055677/102 (Korea1K)
A=0.072937/152 (HGDP_Stanford)
A=0.0745/10446 (GnomAD)
A=0.079281/20985 (TOPMED)
A=0.080952/17 (Vietnamese)
A=0.092593/20 (Qatari)
A=0.098309/186 (HapMap)
A=0.104778/525 (1000Genomes)
G=0.476744/41 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000007.14:g.45861950G>A, NC_000007.13:g.45901549G>A, NM_001395235.1:c.*1135C>T, XM_047419863.1:c.*1135C>T

PubMed LitVar

Select item 206447618.

rs2064476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33105545 (GRCh38)
6:33073322 (GRCh37)
Canonical SPDI:: NC_000006.12:33105544:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.31185/66290 (ALFA)
G=0.254241/1139 (Estonian)
A=0.264151/56 (Vietnamese)
G=0.273451/309 (Daghestan)
G=0.295/177 (NorthernSweden)
G=0.295577/1096 (TWINSUK)
G=0.3/12 (GENOME_DK)
G=0.309619/309 (GoNL)
G=0.316814/1221 (ALSPAC)
G=0.34375/22 (PRJEB36033)
A=0.351852/114 (SGDP_PRJ)
G=0.36614/51220 (GnomAD)
G=0.373074/98749 (TOPMED)
G=0.421296/91 (Qatari)
G=0.438498/34501 (PAGE_STUDY)
A=0.454696/7621 (TOMMO)
G=0.457717/866 (HapMap)
G=0.467676/2342 (1000Genomes)
G=0.496587/1455 (KOREAN)
A=0.498728/392 (PRJEB37584)
A=0.5/9 (Siberian)
HGVS:: NC_000006.12:g.33105545A>G, NC_000006.11:g.33073322A>G, NG_007926.2:g.1700T>C, NT_113891.3:g.4517319G>A, NT_113891.2:g.4517425G>A, NT_167249.2:g.4554502A>G, NT_167249.1:g.4553800A>G, NT_167248.2:g.4300181A>G, NT_167248.1:g.4305777A>G, NT_167247.2:g.4404555A>G, NT_167247.1:g.4410140A>G, NT_167246.2:g.4525250A>G, NT_167246.1:g.4530870A>G, NT_167244.2:g.4410170A>G, NT_167244.1:g.4360086A>G

PubMed LitVar

Select item 167854219.

rs1678542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:57574932 (GRCh38)
12:57968715 (GRCh37)
Canonical SPDI:: NC_000012.12:57574931:C:G,NC_000012.12:57574931:C:T
Gene:: KIF5A (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.395038/33278 (ALFA)
C=0.198113/42 (Vietnamese)
C=0.198174/3321 (TOMMO)
C=0.223891/656 (KOREAN)
C=0.231987/425 (Korea1K)
C=0.243622/191 (PRJEB37584)
C=0.255656/113 (SGDP_PRJ)
C=0.3/12 (Siberian)
G=0.322645/322 (GoNL)
G=0.340824/182 (MGP)
G=0.35/28 (PRJEB36033)
G=0.354639/1315 (TWINSUK)
G=0.362999/1399 (ALSPAC)
G=0.37037/80 (Qatari)
G=0.398333/239 (NorthernSweden)
G=0.4/16 (GENOME_DK)
G=0.413554/57867 (GnomAD)
G=0.416551/110257 (TOPMED)
G=0.459436/521 (Daghestan)
G=0.463616/2077 (Estonian)
G=0.476695/900 (HapMap)
C=0.477826/2393 (1000Genomes)
G=0.4874/38297 (PAGE_STUDY)
HGVS:: NC_000012.12:g.57574932C>G, NC_000012.12:g.57574932C>T, NC_000012.11:g.57968715C>G, NC_000012.11:g.57968715C>T, NG_008155.1:g.29869C>G, NG_008155.1:g.29869C>T

PubMed LitVar

Select item 132867420.

rs1328674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 13:46867572 (GRCh38)
13:47441707 (GRCh37)
Canonical SPDI:: NC_000013.11:46867571:T:A,NC_000013.11:46867571:T:C,NC_000013.11:46867571:T:G
Gene:: HTR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.047323/8739 (ALFA)
G=0./0 (KOREAN)
T=0.011667/7 (NorthernSweden)
T=0.025/1 (GENOME_DK)
T=0.028571/128 (Estonian)
T=0.035742/599 (TOMMO)
T=0.037383/8 (Vietnamese)
T=0.037634/21 (SGDP_PRJ)
T=0.038921/150 (ALSPAC)
T=0.04288/159 (TWINSUK)
T=0.04798/38 (PRJEB37584)
T=0.0501/50 (GoNL)
T=0.053191/100 (HapMap)
T=0.054185/271 (1000Genomes)
T=0.055182/115 (HGDP_Stanford)
T=0.063865/117 (Korea1K)
T=0.064083/16962 (TOPMED)
T=0.071429/4 (Siberian)
T=0.072605/5714 (PAGE_STUDY)
T=0.087963/19 (Qatari)
T=0.214286/6 (PRJEB36033)
HGVS:: NC_000013.11:g.46867572T>A, NC_000013.11:g.46867572T>C, NC_000013.11:g.46867572T>G, NC_000013.10:g.47441707T>A, NC_000013.10:g.47441707T>C, NC_000013.10:g.47441707T>G, NG_013011.1:g.34463A>T, NG_013011.1:g.34463A>G, NG_013011.1:g.34463A>C

PubMed LitVar

dbSNP

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