SNP Links for PMC (Select 4062418) - SNP

Links from PMC

Items: 15

Select item 126085441.

rs12608544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48633394 (GRCh38)
19:49136651 (GRCh37)
Canonical SPDI:: NC_000019.10:48633393:G:A
Gene:: DBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.05741/8905 (ALFA)
A=0.035059/130 (TWINSUK)
A=0.035288/136 (ALSPAC)
A=0.043086/43 (GoNL)
A=0.044196/198 (Estonian)
A=0.046667/28 (NorthernSweden)
A=0.052434/28 (MGP)
A=0.075/3 (GENOME_DK)
A=0.096878/1260 (GoESP)
A=0.097288/11715 (ExAC)
A=0.09838/24639 (GnomAD_exomes)
A=0.101852/22 (Qatari)
A=0.104296/14614 (GnomAD)
A=0.116087/30727 (TOPMED)
A=0.169625/497 (KOREAN)
A=0.172553/2892 (TOMMO)
A=0.173173/867 (1000Genomes)
A=0.182875/346 (HapMap)
A=0.206332/378 (Korea1K)
A=0.228426/180 (PRJEB37584)
A=0.396226/84 (Vietnamese)
G=0.396341/65 (SGDP_PRJ)
G=0.4/4 (Siberian)
HGVS:: NC_000019.10:g.48633394G>A, NC_000019.9:g.49136651G>A

PubMed

Select item 81767462.

rs8176746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:133255935 (GRCh38)
9:136131322 (GRCh37)
Canonical SPDI:: NC_000009.12:133255934:G:A,NC_000009.12:133255934:G:T
Gene:: ABO (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: affects
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.085606/30509 (ALFA)
T=0./0 (PRJEB36033)
T=0.05618/30 (MGP)
T=0.057862/223 (ALSPAC)
T=0.061758/229 (TWINSUK)
T=0.075/3 (GENOME_DK)
T=0.078704/17 (Qatari)
T=0.081667/49 (NorthernSweden)
T=0.101137/1228 (GoESP)
T=0.105894/28029 (TOPMED)
T=0.110523/15458 (GnomAD)
T=0.121622/36 (FINRISK)
T=0.145053/302 (HGDP_Stanford)
T=0.152873/766 (1000Genomes)
T=0.171205/767 (Estonian)
T=0.173442/2904 (TOMMO)
T=0.223361/654 (KOREAN)
T=0.227273/180 (PRJEB37584)
T=0.229029/415 (Korea1K)
G=0.454545/10 (Siberian)
G=0.466216/69 (SGDP_PRJ)
HGVS:: NC_000009.12:g.133255935G>A, NC_000009.12:g.133255935G>T, NC_000009.11:g.136131322G>A, NC_000009.11:g.136131322G>T, NG_006669.2:g.24281C>T, NG_006669.2:g.24281C>A, NM_020469.3:c.796C>T, NM_020469.3:c.796C>A, NM_020469.2:c.796C>T, NM_020469.2:c.796C>A, NW_009646201.1:g.82028G>A, NW_009646201.1:g.82028G>T, NW_003315925.1:g.82028G>A, NW_003315925.1:g.82028G>T, NP_065202.2:p.Leu266Met

PubMed

Select item 81767043.

rs8176704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133260148 (GRCh38)
9:136135552 (GRCh37)
Canonical SPDI:: NC_000009.12:133260147:G:A
Gene:: ABO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.062028/7478 (ALFA)
A=0.000684/2 (KOREAN)
A=0.02975/62 (HGDP_Stanford)
A=0.037037/4 (PRJEB36033)
A=0.043621/3433 (PAGE_STUDY)
A=0.047002/235 (1000Genomes)
A=0.055446/14676 (TOPMED)
A=0.058036/260 (Estonian)
A=0.063042/8840 (GnomAD)
A=0.070119/260 (TWINSUK)
A=0.072392/279 (ALSPAC)
A=0.075/3 (GENOME_DK)
A=0.08517/85 (GoNL)
A=0.125/27 (Qatari)
A=0.143333/86 (NorthernSweden)
G=0.464286/13 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000009.12:g.133260148G>A, NC_000009.11:g.136135552G>A, NG_006669.2:g.20067C>T, NW_009646201.1:g.86242G>A, NW_003315925.1:g.86242G>A

PubMed

Select item 81115004.

rs8111500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:48649698 (GRCh38)
19:49152955 (GRCh37)
Canonical SPDI:: NC_000019.10:48649697:G:A,NC_000019.10:48649697:G:C,NC_000019.10:48649697:G:T
Gene:: SEC1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.369841/52385 (ALFA)
T=0./0 (KOREAN)
A=0.328333/197 (NorthernSweden)
G=0.336111/121 (SGDP_PRJ)
A=0.361111/78 (Qatari)
G=0.366667/11 (Siberian)
A=0.379606/1463 (ALSPAC)
A=0.385772/385 (GoNL)
A=0.386192/1432 (TWINSUK)
A=0.386361/102266 (TOPMED)
G=0.408397/321 (PRJEB37584)
A=0.422861/2118 (1000Genomes)
A=0.430467/811 (HapMap)
A=0.433259/1941 (Estonian)
G=0.439252/94 (Vietnamese)
A=0.441288/466 (Daghestan)
A=0.45/18 (GENOME_DK)
G=0.456649/7653 (TOMMO)
HGVS:: NC_000019.10:g.48649698G>A, NC_000019.10:g.48649698G>C, NC_000019.10:g.48649698G>T, NC_000019.9:g.49152955G>A, NC_000019.9:g.49152955G>C, NC_000019.9:g.49152955G>T

PubMed

Select item 69832675.

rs6983267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:127401060 (GRCh38)
8:128413305 (GRCh37)
Canonical SPDI:: NC_000008.11:127401059:G:T
Gene:: CASC8 (Varview), CCAT2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.47516/167685 (ALFA)
G=0.261905/11 (Siberian)
G=0.305405/113 (SGDP_PRJ)
T=0.322638/25391 (PAGE_STUDY)
G=0.326704/5476 (TOMMO)
T=0.345705/652 (HapMap)
T=0.363682/96263 (TOPMED)
T=0.370399/51881 (GnomAD)
T=0.37945/1900 (1000Genomes)
T=0.412037/89 (Qatari)
G=0.414286/87 (Vietnamese)
G=0.417576/765 (Korea1K)
T=0.425/17 (GENOME_DK)
G=0.430717/1262 (KOREAN)
G=0.433842/341 (PRJEB37584)
T=0.448898/448 (GoNL)
T=0.452015/942 (HGDP_Stanford)
T=0.468051/293 (Chileans)
T=0.469901/1811 (ALSPAC)
T=0.484088/1795 (TWINSUK)
T=0.49/294 (NorthernSweden)
T=0.490848/2199 (Estonian)
G=0.497321/557 (Daghestan)
G=0.5/2 (PRJEB36033)
HGVS:: NC_000008.11:g.127401060G>T, NC_000008.10:g.128413305G>T, NR_109834.1:n.662G>T

PubMed

Select item 44641486.

rs4464148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:48932662 (GRCh38)
18:46459032 (GRCh37)
Canonical SPDI:: NC_000018.10:48932661:T:C
Gene:: SMAD7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.297965/92471 (ALFA)
C=0.042929/34 (PRJEB37584)
C=0.048022/805 (TOMMO)
C=0.048939/143 (KOREAN)
C=0.060748/13 (Vietnamese)
C=0.160056/802 (1000Genomes)
C=0.174443/329 (HapMap)
C=0.175624/366 (HGDP_Stanford)
C=0.178037/14009 (PAGE_STUDY)
C=0.211667/127 (NorthernSweden)
C=0.241721/63981 (TOPMED)
C=0.249829/34976 (GnomAD)
C=0.269539/269 (GoNL)
C=0.289955/1299 (Estonian)
C=0.291667/63 (Qatari)
C=0.296834/1144 (ALSPAC)
C=0.305556/1133 (TWINSUK)
C=0.35/14 (GENOME_DK)
T=0.409091/9 (Siberian)
T=0.4375/63 (SGDP_PRJ)
C=0.463415/38 (PRJEB36033)
HGVS:: NC_000018.10:g.48932662T>C, NC_000018.9:g.46459032T>C, NG_023330.1:g.23050A>G

PubMed

Select item 37867497.

rs3786749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:48592021 (GRCh38)
19:49095278 (GRCh37)
Canonical SPDI:: NC_000019.10:48592020:T:C,NC_000019.10:48592020:T:G
Gene:: SULT2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.051609/2229 (ALFA)
T=0.025/1 (GENOME_DK)
T=0.031062/31 (GoNL)
T=0.037217/138 (TWINSUK)
T=0.037883/146 (ALSPAC)
T=0.05/30 (NorthernSweden)
T=0.050893/228 (Estonian)
T=0.050926/11 (Qatari)
T=0.067416/36 (SGDP_PRJ)
T=0.085004/11908 (GnomAD)
T=0.0855/22631 (TOPMED)
T=0.092593/5 (Siberian)
T=0.109739/1839 (TOMMO)
T=0.123208/361 (KOREAN)
T=0.13273/665 (1000Genomes)
T=0.149017/273 (Korea1K)
T=0.177296/139 (PRJEB37584)
T=0.361111/78 (Vietnamese)
HGVS:: NC_000019.10:g.48592021T>C, NC_000019.10:g.48592021T>G, NC_000019.9:g.49095278T>C, NC_000019.9:g.49095278T>G, NG_029063.1:g.44850T>C, NG_029063.1:g.44850T>G

PubMed

Select item 37607758.

rs3760775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:5841345 (GRCh38)
19:5841356 (GRCh37)
Canonical SPDI:: NC_000019.10:5841344:G:T
Gene:: FUT6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.088336/12404 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.06/36 (NorthernSweden)
T=0.06383/246 (ALSPAC)
T=0.064128/64 (GoNL)
T=0.06877/255 (TWINSUK)
T=0.075446/338 (Estonian)
T=0.085183/17469 (GENOGRAPHIC)
T=0.090909/6 (PRJEB36033)
T=0.097222/21 (Qatari)
T=0.152423/21366 (GnomAD)
T=0.16633/44026 (TOPMED)
T=0.204762/387 (HapMap)
T=0.229856/1151 (1000Genomes)
T=0.251338/19724 (PAGE_STUDY)
T=0.261981/164 (Chileans)
T=0.264631/208 (PRJEB37584)
T=0.299065/64 (Vietnamese)
T=0.308642/5172 (TOMMO)
T=0.327304/959 (KOREAN)
G=0.391892/87 (SGDP_PRJ)
G=0.5/9 (Siberian)
HGVS:: NC_000019.10:g.5841345G>T, NC_000019.9:g.5841356G>T, NG_007482.2:g.20778C>A, NW_025791810.1:g.14924G>T, NG_007505.1:g.3387C>A

PubMed

Select item 20716999.

rs2071699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:48751247 (GRCh38)
19:49254504 (GRCh37)
Canonical SPDI:: NC_000019.10:48751246:G:A,NC_000019.10:48751246:G:T
Gene:: FUT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.023233/4370 (ALFA)
A=0.01002/10 (GoNL)
A=0.011236/6 (MGP)
A=0.014916/194 (GoESP)
A=0.015372/57 (TWINSUK)
A=0.018682/72 (ALSPAC)
A=0.023026/7 (FINRISK)
A=0.023148/5 (Qatari)
A=0.023333/14 (NorthernSweden)
A=0.024642/3456 (GnomAD)
A=0.030209/7996 (TOPMED)
A=0.03683/165 (Estonian)
A=0.057846/6935 (ExAC)
A=0.059025/14801 (GnomAD_exomes)
A=0.069083/5437 (PAGE_STUDY)
A=0.092442/463 (1000Genomes)
A=0.153846/188 (HapMap)
A=0.288608/228 (PRJEB37584)
A=0.291531/179 (Vietnamese)
G=0.333333/2 (Siberian)
A=0.386785/6482 (TOMMO)
A=0.40847/1196 (KOREAN)
G=0.421569/43 (SGDP_PRJ)
HGVS:: NC_000019.10:g.48751247G>A, NC_000019.10:g.48751247G>T, NC_000019.9:g.49254504G>A, NC_000019.9:g.49254504G>T, NG_007510.2:g.9144C>T, NG_007510.2:g.9144C>A, NM_000148.4:c.35C>T, NM_000148.4:c.35C>A, NM_000148.3:c.35C>T, NM_000148.3:c.35C>A, NM_001329877.1:c.35C>T, NM_001329877.1:c.35C>A, NM_001384359.1:c.35C>T, NM_001384359.1:c.35C>A, NG_033945.1:g.161G>A, NG_033945.1:g.161G>T, NP_000139.1:p.Ala12Val, NP_000139.1:p.Ala12Asp, NP_001316806.1:p.Ala12Val, NP_001316806.1:p.Ala12Asp, NP_001371288.1:p.Ala12Val, NP_001371288.1:p.Ala12Asp

PubMed

Select item 104778110.

rs1047781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:48703374 (GRCh38)
19:49206631 (GRCh37)
Canonical SPDI:: NC_000019.10:48703373:A:C,NC_000019.10:48703373:A:T
Gene:: FUT2 (Varview), LOC105447645 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign,confers-sensitivity
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.014988/1636 (ALFA)
T=0./0 (PRJEB36033)
T=0.00027/1 (TWINSUK)
T=0.000778/3 (ALSPAC)
T=0.00463/1 (Qatari)
T=0.011297/1584 (GnomAD)
T=0.019838/5251 (TOPMED)
T=0.035128/4210 (ExAC)
T=0.036422/9127 (GnomAD_exomes)
T=0.082605/414 (1000Genomes)
T=0.103659/34 (HapMap)
A=0.368421/28 (SGDP_PRJ)
T=0.394521/6609 (TOMMO)
A=0.423701/261 (Vietnamese)
T=0.451654/355 (PRJEB37584)
T=0.483265/1415 (KOREAN)
A=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.48703374A>C, NC_000019.10:g.48703374A>T, NC_000019.9:g.49206631A>C, NC_000019.9:g.49206631A>T, NG_007511.1:g.12404A>C, NG_007511.1:g.12404A>T, NM_000511.6:c.418A>C, NM_000511.6:c.418A>T, NM_000511.5:c.418A>C, NM_000511.5:c.418A>T, NM_001097638.3:c.418A>C, NM_001097638.3:c.418A>T, NM_001097638.2:c.418A>C, NM_001097638.2:c.418A>T, NR_131188.1:n.475T>G, NR_131188.1:n.475T>A, NP_000502.4:p.Ile140Leu, NP_000502.4:p.Ile140Phe, NP_001091107.1:p.Ile140Leu, NP_001091107.1:p.Ile140Phe

PubMed

Select item 68728911.

rs687289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:133261703 (GRCh38)
9:136137106 (GRCh37)
Canonical SPDI:: NC_000009.12:133261702:A:C,NC_000009.12:133261702:A:G
Gene:: ABO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.349446/73130 (ALFA)
C=0./0 (KOREAN)
A=0.36089/95524 (TOPMED)
A=0.363783/28589 (PAGE_STUDY)
A=0.375338/52521 (GnomAD)
A=0.380231/2435 (1000Genomes)
A=0.434744/12285 (TOMMO)
HGVS:: NC_000009.12:g.133261703A>C, NC_000009.12:g.133261703A>G, NC_000009.11:g.136137106G>A, NC_000009.11:g.136137106G>C, NG_006669.2:g.18512T>G, NG_006669.2:g.18512T>C, NW_009646201.1:g.87797A>C, NW_009646201.1:g.87797A>G, NW_003315925.1:g.87797A>C, NW_003315925.1:g.87797A>G

PubMed

Select item 50766612.

rs507666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:133273983 (GRCh38)
9:136149399 (GRCh37)
Canonical SPDI:: NC_000009.12:133273982:A:G
Gene:: ABO (Varview)
Functional Consequence:: intron_variant
Clinical significance:: association
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.200909/28513 (ALFA)
A=0.141006/903 (1000Genomes)
A=0.148719/11703 (PAGE_STUDY)
A=0.163357/43239 (TOPMED)
A=0.168276/23568 (GnomAD)
A=0.242904/445 (Korea1K)
A=0.259537/7334 (TOMMO)
HGVS:: NC_000009.12:g.133273983A>G, NC_000009.11:g.136149399G>A, NG_006669.2:g.6232T>C, NW_009646201.1:g.100077A>G, NW_003315925.1:g.100077A>G

PubMed

Select item 44181013.

rs441810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:41326980 (GRCh38)
21:42698907 (GRCh37)
Canonical SPDI:: NC_000021.9:41326979:A:G
Gene:: FAM3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.245463/74736 (ALFA)
G=0.131004/240 (Korea1K)
G=0.131741/386 (KOREAN)
G=0.145/87 (NorthernSweden)
G=0.146366/2453 (TOMMO)
G=0.15404/122 (PRJEB37584)
G=0.191964/860 (Estonian)
G=0.218474/842 (ALSPAC)
G=0.220874/819 (TWINSUK)
G=0.221443/221 (GoNL)
G=0.235849/50 (Vietnamese)
G=0.25/10 (GENOME_DK)
G=0.330614/689 (HGDP_Stanford)
A=0.335616/98 (SGDP_PRJ)
G=0.364616/1826 (1000Genomes)
G=0.365741/79 (Qatari)
G=0.366108/51288 (GnomAD)
G=0.37037/20 (PRJEB36033)
G=0.380086/100605 (TOPMED)
G=0.436047/825 (HapMap)
G=0.443816/34923 (PAGE_STUDY)
A=0.5/8 (Siberian)
HGVS:: NC_000021.9:g.41326980A>G, NC_000021.8:g.42698907A>G

PubMed

Select item 37607714.

rs376077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4361699 (GRCh38)
11:4382929 (GRCh37)
Canonical SPDI:: NC_000011.10:4361698:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.4361699T>C, NC_000011.9:g.4382929T>C

PubMed

Select item 1031815.

rs10318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:32733778 (GRCh38)
15:33025979 (GRCh37)
Canonical SPDI:: NC_000015.10:32733777:C:T
Gene:: GREM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.184337/39545 (ALFA)
T=0./0 (PRJEB36033)
T=0.003745/2 (MGP)
T=0.134259/29 (Qatari)
T=0.149549/39584 (TOPMED)
T=0.152599/21348 (GnomAD)
T=0.161667/97 (NorthernSweden)
T=0.179813/693 (ALSPAC)
T=0.180361/180 (GoNL)
T=0.191208/709 (TWINSUK)
T=0.202009/905 (Estonian)
T=0.216971/404 (HapMap)
T=0.218613/1095 (1000Genomes)
T=0.25/10 (GENOME_DK)
T=0.260077/542 (HGDP_Stanford)
C=0.364/91 (SGDP_PRJ)
C=0.409091/9 (Siberian)
C=0.415094/88 (Vietnamese)
T=0.482271/8083 (TOMMO)
C=0.483618/1417 (KOREAN)
C=0.489637/378 (PRJEB37584)
HGVS:: NC_000015.10:g.32733778C>T, NC_000015.9:g.33025979C>T, NG_033791.2:g.20775C>T, NM_013372.7:c.*2533C>T, NM_013372.6:c.*2533C>T, NM_001191323.2:c.*2533C>T, NM_001191323.1:c.*2533C>T, NM_001191322.2:c.*2533C>T, NM_001191322.1:c.*2533C>T, NM_001368719.1:c.*2533C>T, NW_012132920.1:g.2252192C>T, NW_011332701.1:g.4785908C>T, NT_187660.1:g.4948360C>T

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