rs7981912

Homo sapiens
G>A
VWA8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0131 (3941/29956,GnomAD)
A=0180 (5255/29116,TOPMED)
A=0162 (811/5008,1000G)
A=0075 (289/3854,ALSPAC)
A=0068 (252/3708,TWINSUK)
chr13:41622807 (GRCh38.p7) (13q14.11)
AD
GWASdb2
1   publication(s)
See rs on genome
210 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.41622807G>A
GRCh37.p13 chr 13NC_000013.10:g.42196943G>A

Gene: VWA8, von Willebrand factor A domain containing 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
VWA8 transcript variant 1NM_015058.1:c.N/AIntron Variant
VWA8 transcript variant 2NM_001009814.1:c.N/AGenic Downstream Transcript Variant
VWA8 transcript variant X2XM_006719791.3:c.N/AIntron Variant
VWA8 transcript variant X1XM_017020469.1:c.N/AIntron Variant
VWA8 transcript variant X3XM_017020470.1:c.N/AIntron Variant
VWA8 transcript variant X7XM_017020472.1:c.N/AIntron Variant
VWA8 transcript variant X8XM_017020473.1:c.N/AIntron Variant
VWA8 transcript variant X5XM_011535007.2:c.N/AGenic Downstream Transcript Variant
VWA8 transcript variant X6XM_017020471.1:c.N/AGenic Downstream Transcript Variant
VWA8 transcript variant X9XM_017020474.1:c.N/AGenic Downstream Transcript Variant
VWA8 transcript variant X4XR_001749518.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.707A=0.293
1000GenomesAmericanSub694G=0.930A=0.070
1000GenomesEast AsianSub1008G=0.817A=0.183
1000GenomesEuropeSub1006G=0.933A=0.067
1000GenomesGlobalStudy-wide5008G=0.838A=0.162
1000GenomesSouth AsianSub978G=0.870A=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.925A=0.075
The Genome Aggregation DatabaseAfricanSub8712G=0.719A=0.281
The Genome Aggregation DatabaseAmericanSub838G=0.930A=0.070
The Genome Aggregation DatabaseEast AsianSub1610G=0.835A=0.165
The Genome Aggregation DatabaseEuropeSub18494G=0.938A=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.868A=0.131
The Genome Aggregation DatabaseOtherSub302G=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.819A=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.932A=0.068
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs79819120.000486alcohol dependence21314694

eQTL of rs7981912 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs7981912 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr134216171942161952E067-34991
chr134216195342162092E067-34851
chr134218440242185121E067-11822
chr134218535642185428E067-11515
chr134218548142185548E067-11395
chr134218565442185774E067-11169
chr134218749642189298E067-7645
chr134221345742213939E06716514
chr134221397042214053E06717027
chr134221409542214617E06717152
chr134221480942214874E06717866
chr134221763142218094E06720688
chr134222244142223013E06725498
chr134222477142224874E06727828
chr134222617842226324E06729235
chr134222639942226491E06729456
chr134222652442226691E06729581
chr134222671942226769E06729776
chr134218409042184219E068-12724
chr134218426542184390E068-12553
chr134218440242185121E068-11822
chr134218535642185428E068-11515
chr134221409542214617E06817152
chr134221480942214874E06817866
chr134221513742215208E06818194
chr134221525342215410E06818310
chr134221563642215905E06818693
chr134221763142218094E06820688
chr134222477142224874E06827828
chr134222487942225379E06827936
chr134222617842226324E06829235
chr134222639942226491E06829456
chr134222652442226691E06829581
chr134222671942226769E06829776
chr134224609142246164E06849148
chr134215614242156589E069-40354
chr134216171942161952E069-34991
chr134216195342162092E069-34851
chr134216211742162171E069-34772
chr134216714242167238E069-29705
chr134216725742167307E069-29636
chr134216745242167732E069-29211
chr134217449342174547E069-22396
chr134217457242174632E069-22311
chr134217488842174938E069-22005
chr134217516442175238E069-21705
chr134217545342175627E069-21316
chr134217573542175915E069-21028
chr134217596442176163E069-20780
chr134218535642185428E069-11515
chr134218749642189298E069-7645
chr134219825242198538E0691309
chr134219865342198703E0691710
chr134221334542213431E06916402
chr134221345742213939E06916514
chr134221397042214053E06917027
chr134221409542214617E06917152
chr134221763142218094E06920688
chr134222198142222069E06925038
chr134222218942222303E06925246
chr134222232642222370E06925383
chr134222244142223013E06925498
chr134222477142224874E06927828
chr134222487942225379E06927936
chr134222546442225514E06928521
chr134222617842226324E06929235
chr134222639942226491E06929456
chr134222652442226691E06929581
chr134222671942226769E06929776
chr134224525242245596E06948309
chr134224609142246164E06949148
chr134220805542208186E07011112
chr134220827442208351E07011331
chr134221397042214053E07017027
chr134221409542214617E07017152
chr134221480942214874E07017866
chr134221513742215208E07018194
chr134221525342215410E07018310
chr134221563642215905E07018693
chr134221600442216086E07019061
chr134221614442216198E07019201
chr134221727742217327E07020334
chr134221763142218094E07020688
chr134223867842238770E07041735
chr134215614242156589E071-40354
chr134216171942161952E071-34991
chr134216195342162092E071-34851
chr134216211742162171E071-34772
chr134217488842174938E071-22005
chr134217516442175238E071-21705
chr134217545342175627E071-21316
chr134217573542175915E071-21028
chr134218440242185121E071-11822
chr134218535642185428E071-11515
chr134218548142185548E071-11395
chr134219825242198538E0711309
chr134219865342198703E0711710
chr134221334542213431E07116402
chr134221409542214617E07117152
chr134221480942214874E07117866
chr134221513742215208E07118194
chr134221525342215410E07118310
chr134221563642215905E07118693
chr134221763142218094E07120688
chr134221856042218628E07121617
chr134221869942218752E07121756
chr134221883942218904E07121896
chr134222198142222069E07125038
chr134222218942222303E07125246
chr134222232642222370E07125383
chr134222244142223013E07125498
chr134222477142224874E07127828
chr134222487942225379E07127936
chr134222546442225514E07128521
chr134222558042225680E07128637
chr134222590842226112E07128965
chr134222617842226324E07129235
chr134222639942226491E07129456
chr134222652442226691E07129581
chr134222671942226769E07129776
chr134224469042244740E07147747
chr134224525242245596E07148309
chr134224578342245898E07148840
chr134217449342174547E072-22396
chr134217516442175238E072-21705
chr134217545342175627E072-21316
chr134217573542175915E072-21028
chr134217596442176163E072-20780
chr134218409042184219E072-12724
chr134218426542184390E072-12553
chr134218440242185121E072-11822
chr134218535642185428E072-11515
chr134218548142185548E072-11395
chr134221334542213431E07216402
chr134221345742213939E07216514
chr134221397042214053E07217027
chr134221409542214617E07217152
chr134221480942214874E07217866
chr134221513742215208E07218194
chr134221763142218094E07220688
chr134222391342224082E07226970
chr134222442142224581E07227478
chr134222477142224874E07227828
chr134222487942225379E07227936
chr134222617842226324E07229235
chr134222639942226491E07229456
chr134222652442226691E07229581
chr134222671942226769E07229776
chr134224525242245596E07248309
chr134216044442160639E073-36304
chr134216065742160853E073-36090
chr134218440242185121E073-11822
chr134218535642185428E073-11515
chr134218548142185548E073-11395
chr134218565442185774E073-11169
chr134218749642189298E073-7645
chr134221316142213227E07316218
chr134221334542213431E07316402
chr134221345742213939E07316514
chr134221397042214053E07317027
chr134221409542214617E07317152
chr134222477142224874E07327828
chr134222487942225379E07327936
chr134216065742160853E074-36090
chr134216098042161050E074-35893
chr134216123242161289E074-35654
chr134216137442161418E074-35525
chr134216171942161952E074-34991
chr134216195342162092E074-34851
chr134216211742162171E074-34772
chr134216714242167238E074-29705
chr134216725742167307E074-29636
chr134216745242167732E074-29211
chr134217449342174547E074-22396
chr134217457242174632E074-22311
chr134217488842174938E074-22005
chr134217516442175238E074-21705
chr134217545342175627E074-21316
chr134218440242185121E074-11822
chr134218535642185428E074-11515
chr134218749642189298E074-7645
chr134219661942197584E0740
chr134219865342198703E0741710
chr134221316142213227E07416218
chr134221334542213431E07416402
chr134221345742213939E07416514
chr134221409542214617E07417152
chr134221563642215905E07418693
chr134222198142222069E07425038
chr134222218942222303E07425246
chr134222232642222370E07425383
chr134222244142223013E07425498
chr134222477142224874E07427828
chr134222487942225379E07427936
chr134222590842226112E07428965
chr134222617842226324E07429235
chr134222639942226491E07429456
chr134222652442226691E07429581
chr134222671942226769E07429776
chr134222680242227210E07429859
chr134219661942197584E0810
chr134219825242198538E0811309
chr134221563642215905E08218693
chr134221600442216086E08219061
chr134221614442216198E08219201
chr134221626642216421E08219323
chr134221763142218094E08220688
chr134221856042218628E08221617
chr134221869942218752E08221756
chr134221883942218904E08221896