rs3782886

Homo sapiens
T>C
BRAP : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0017 (2088/121356,ExAC)
C=0014 (441/29994,GnomAD)
C=0000 (8/29118,TOPMED)
T==0000 (2/13006,GO-ESP)
C=0036 (178/5008,1000G)
C=0001 (4/3854,ALSPAC)
C=0000 (0/3708,TWINSUK)
chr12:111672685 (GRCh38.p7) (12q24.12)
AD
GWASdb2
9   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.111672685T>C
GRCh37.p13 chr 12NC_000012.11:g.112110489T>C

Gene: BRAP, BRCA1 associated protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
BRAP transcriptNM_006768.4:c.723A>GR [AGA]> R [AGG]Coding Sequence Variant
BRCA1-associated proteinNP_006759.3:p.Arg...NP_006759.3:p.Arg241=R [Arg]> R [Arg]Synonymous Variant
BRAP transcript variant X1XM_005253944.4:c....XM_005253944.4:c.846A>GR [AGA]> R [AGG]Coding Sequence Variant
BRCA1-associated protein isoform X1XP_005254001.1:p....XP_005254001.1:p.Arg282=R [Arg]> R [Arg]Synonymous Variant
BRAP transcript variant X2XM_017019992.1:c....XM_017019992.1:c.561A>GR [AGA]> R [AGG]Coding Sequence Variant
BRCA1-associated protein isoform X2XP_016875481.1:p....XP_016875481.1:p.Arg187=R [Arg]> R [Arg]Synonymous Variant
BRAP transcript variant X3XM_017019993.1:c....XM_017019993.1:c.276A>GR [AGA]> R [AGG]Coding Sequence Variant
BRCA1-associated protein isoform X3XP_016875482.1:p....XP_016875482.1:p.Arg92=R [Arg]> R [Arg]Synonymous Variant
BRAP transcript variant X4XM_017019994.1:c....XM_017019994.1:c.276A>GR [AGA]> R [AGG]Coding Sequence Variant
BRCA1-associated protein isoform X3XP_016875483.1:p....XP_016875483.1:p.Arg92=R [Arg]> R [Arg]Synonymous Variant
BRAP transcript variant X5XM_017019995.1:c....XM_017019995.1:c.276A>GR [AGA]> R [AGG]Coding Sequence Variant
BRCA1-associated protein isoform X3XP_016875484.1:p....XP_016875484.1:p.Arg92=R [Arg]> R [Arg]Synonymous Variant
BRAP transcript variant X6XM_011538789.2:c....XM_011538789.2:c.11A>GE [GAG]> G [GGG]Coding Sequence Variant
BRCA1-associated protein isoform X4XP_011537091.1:p....XP_011537091.1:p.Glu4GlyE [Glu]> G [Gly]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=1.000C=0.000
1000GenomesAmericanSub694T=1.000C=0.000
1000GenomesEast AsianSub1008T=0.825C=0.175
1000GenomesEuropeSub1006T=1.000C=0.000
1000GenomesGlobalStudy-wide5008T=0.964C=0.036
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.999C=0.001
The Exome Aggregation ConsortiumAmericanSub21972T=0.999C=0.000
The Exome Aggregation ConsortiumAsianSub25148T=0.917C=0.082
The Exome Aggregation ConsortiumEuropeSub73330T=0.999C=0.000
The Exome Aggregation ConsortiumGlobalStudy-wide121356T=0.982C=0.017
The Exome Aggregation ConsortiumOtherSub906T=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8728T=1.000C=0.000
The Genome Aggregation DatabaseAmericanSub838T=1.000C=0.000
The Genome Aggregation DatabaseEast AsianSub1616T=0.729C=0.271
The Genome Aggregation DatabaseEuropeSub18510T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29994T=0.985C=0.014
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.999C=0.000
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=1.000C=0.000
PMID Title Author Journal
27181629Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.Sakiyama MSci Rep
24916648A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.Hirokawa MEur J Hum Genet
22965072The single nucleotide polymorphisms in BRAP decrease the risk of metabolic syndrome in a Chinese young adult population.Wu LDiab Vasc Dis Res
20729852A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.Abnet CCNat Genet
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet
23555315Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.Haiman CAPLoS Genet
27245511Effect of dietary energy and polymorphisms in BRAP and GHRL on obesity and metabolic traits.Imaizumi TObes Res Clin Pract
21971053Genome-wide association study of coronary artery disease in the Japanese.Takeuchi FEur J Hum Genet
26833210Evaluation of pleiotropic effects among common genetic loci identified for cardio-metabolic traits in a Korean population.Kim YKCardiovasc Diabetol

P-Value

SNP ID p-value Traits Study
rs37828864.48E-77alcohol (ever vs. never)23555315
rs37828861.95E-16alcohol consumption (maxi-drinks)24277619
rs37828862.17E-09alcohol consumption23555315
rs37828864.55E-08alcohol dependence24277619

eQTL of rs3782886 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 rs3782886 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 )
chr12112073331112075037E067-35452
chr12112080293112080437E067-30052
chr12112080574112080753E067-29736
chr12112080875112082060E067-28429
chr12112091561112091601E067-18888
chr12112103505112103591E067-6898
chr12112121005112121049E06710516
chr12112121293112121343E06710804
chr12112121582112121632E06711093
chr12112121724112121796E06711235
chr12112121888112121937E06711399
chr12112122047112122097E06711558
chr12112122118112122168E06711629
chr12112153115112153510E06742626
chr12112153601112153651E06743112
chr12112073331112075037E068-35452
chr12112075134112075332E068-35157
chr12112075381112075450E068-35039
chr12112078196112078770E068-31719
chr12112121888112121937E06811399
chr12112122047112122097E06811558
chr12112122118112122168E06811629
chr12112125136112125350E06814647
chr12112125515112125592E06815026
chr12112152787112153106E06842298
chr12112153115112153510E06842626
chr12112153601112153651E06843112
chr12112153981112154032E06843492
chr12112073331112075037E069-35452
chr12112080293112080437E069-30052
chr12112080574112080753E069-29736
chr12112080875112082060E069-28429
chr12112082158112082202E069-28287
chr12112082262112082349E069-28140
chr12112091561112091601E069-18888
chr12112091859112091917E069-18572
chr12112091934112092039E069-18450
chr12112093805112093855E069-16634
chr12112093900112094228E069-16261
chr12112102495112102555E069-7934
chr12112102671112102725E069-7764
chr12112102766112102816E069-7673
chr12112121582112121632E06911093
chr12112121724112121796E06911235
chr12112121888112121937E06911399
chr12112122047112122097E06911558
chr12112122118112122168E06911629
chr12112125136112125350E06914647
chr12112073331112075037E070-35452
chr12112121582112121632E07011093
chr12112121724112121796E07011235
chr12112121888112121937E07011399
chr12112122047112122097E07011558
chr12112122118112122168E07011629
chr12112125136112125350E07014647
chr12112073331112075037E071-35452
chr12112080293112080437E071-30052
chr12112080574112080753E071-29736
chr12112080875112082060E071-28429
chr12112091934112092039E071-18450
chr12112093805112093855E071-16634
chr12112093900112094228E071-16261
chr12112094397112094457E071-16032
chr12112121888112121937E07111399
chr12112122047112122097E07111558
chr12112122118112122168E07111629
chr12112153115112153510E07142626
chr12112073331112075037E072-35452
chr12112080293112080437E072-30052
chr12112080574112080753E072-29736
chr12112080875112082060E072-28429
chr12112082158112082202E072-28287
chr12112091561112091601E072-18888
chr12112091859112091917E072-18572
chr12112091934112092039E072-18450
chr12112102077112102167E072-8322
chr12112102175112102233E072-8256
chr12112102495112102555E072-7934
chr12112102671112102725E072-7764
chr12112102766112102816E072-7673
chr12112102946112103017E072-7472
chr12112103068112103233E072-7256
chr12112103505112103591E072-6898
chr12112120813112120863E07210324
chr12112121888112121937E07211399
chr12112122047112122097E07211558
chr12112122118112122168E07211629
chr12112125136112125350E07214647
chr12112152787112153106E07242298
chr12112153115112153510E07242626
chr12112080574112080753E073-29736
chr12112091561112091601E073-18888
chr12112091859112091917E073-18572
chr12112091934112092039E073-18450
chr12112102495112102555E073-7934
chr12112102671112102725E073-7764
chr12112102766112102816E073-7673
chr12112121888112121937E07311399
chr12112122047112122097E07311558
chr12112122118112122168E07311629
chr12112125136112125350E07314647
chr12112073331112075037E074-35452
chr12112076799112076922E074-33567
chr12112080293112080437E074-30052
chr12112080574112080753E074-29736
chr12112080875112082060E074-28429
chr12112082158112082202E074-28287
chr12112091561112091601E074-18888
chr12112091859112091917E074-18572
chr12112091934112092039E074-18450
chr12112093805112093855E074-16634
chr12112093900112094228E074-16261
chr12112102766112102816E074-7673
chr12112121582112121632E07411093
chr12112121724112121796E07411235
chr12112121888112121937E07411399
chr12112125136112125350E07414647
chr12112073331112075037E081-35452
chr12112075134112075332E081-35157
chr12112075381112075450E081-35039
chr12112076799112076922E081-33567
chr12112078196112078770E081-31719
chr12112093805112093855E081-16634
chr12112093900112094228E081-16261
chr12112122047112122097E08111558
chr12112122118112122168E08111629
chr12112153115112153510E08142626
chr12112073331112075037E082-35452
chr12112076799112076922E082-33567
chr12112078196112078770E082-31719
chr12112120813112120863E08210324
chr12112121005112121049E08210516
chr12112121293112121343E08210804
chr12112121582112121632E08211093
chr12112121724112121796E08211235
chr12112121888112121937E08211399
chr12112122047112122097E08211558
chr12112122118112122168E08211629
chr12112152787112153106E08242298
chr12112153115112153510E08242626










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12112122735112124415E06712246
chr12112122735112124415E06812246
chr12112122735112124415E06912246
chr12112122735112124415E07012246
chr12112122735112124415E07112246
chr12112122735112124415E07212246
chr12112122735112124415E07312246
chr12112122735112124415E07412246
chr12112122735112124415E08112246
chr12112122735112124415E08212246