rs10264890

Homo sapiens
T>G
RPA3 : Intron Variant
UMAD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0470 (14062/29880,GnomAD)
G=0473 (13787/29118,TOPMED)
T==0441 (2207/5008,1000G)
T==0429 (1653/3854,ALSPAC)
T==0430 (1595/3708,TWINSUK)
chr7:7680356 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
118 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.7680356T>G
GRCh37.p13 chr 7NC_000007.13:g.7719987T>G

Gene: UMAD1, UBAP1-MVB12-associated (UMA) domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UMAD1 transcript variant 1NM_001302348.1:c.N/AIntron Variant
UMAD1 transcript variant 2NM_001302349.1:c.N/AIntron Variant
UMAD1 transcript variant 3NM_001302350.1:c.N/AIntron Variant

Gene: RPA3, replication protein A3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RPA3 transcriptNM_002947.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.696G=0.304
1000GenomesAmericanSub694T=0.380G=0.620
1000GenomesEast AsianSub1008T=0.216G=0.784
1000GenomesEuropeSub1006T=0.395G=0.605
1000GenomesGlobalStudy-wide5008T=0.441G=0.559
1000GenomesSouth AsianSub978T=0.410G=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.429G=0.571
The Genome Aggregation DatabaseAfricanSub8688T=0.651G=0.349
The Genome Aggregation DatabaseAmericanSub836T=0.340G=0.660
The Genome Aggregation DatabaseEast AsianSub1618T=0.206G=0.794
The Genome Aggregation DatabaseEuropeSub18436T=0.416G=0.583
The Genome Aggregation DatabaseGlobalStudy-wide29880T=0.470G=0.529
The Genome Aggregation DatabaseOtherSub302T=0.390G=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.526G=0.473
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.430G=0.570
PMID Title Author Journal
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

P-Value

SNP ID p-value Traits Study
rs102648900.000347alcohol consumption (maxi-drinks)24277619

eQTL of rs10264890 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 rs10264890 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 )
chr777136927713746E067-6241
chr777207277721611E067740
chr777216377721766E0671650
chr777218167721891E0671829
chr777221267722186E0672139
chr777221897722286E0672202
chr777223157722511E0672328
chr777225477722822E0672560
chr777229417723021E0672954
chr777346437734777E06714656
chr777348397735552E06714852
chr777586617759797E06738674
chr777207277721611E068740
chr777216377721766E0681650
chr777218167721891E0681829
chr777221267722186E0682139
chr777221897722286E0682202
chr777223157722511E0682328
chr777225477722822E0682560
chr777229417723021E0682954
chr777262127727299E0686225
chr777344897734539E06814502
chr777346437734777E06814656
chr777348397735552E06814852
chr777356307735680E06815643
chr777358267735897E06815839
chr777359547736736E06815967
chr777367747736834E06816787
chr777138627713922E069-6065
chr777207277721611E069740
chr777216377721766E0691650
chr777344897734539E06914502
chr777346437734777E06914656
chr777348397735552E06914852
chr777586617759797E06938674
chr777022937702438E070-17549
chr777275017727699E0707514
chr777410637741133E07021076
chr777411997741305E07021212
chr777413627741477E07021375
chr777435057743575E07023518
chr777445277744716E07024540
chr777448767745169E07024889
chr777459617746052E07025974
chr777463067746425E07026319
chr777465337746623E07026546
chr777466527746848E07026665
chr777468987747220E07026911
chr777480377748104E07028050
chr777481407748271E07028153
chr777485057748555E07028518
chr777485817748631E07028594
chr777487007748784E07028713
chr777488357749367E07028848
chr777494197749523E07029432
chr777586617759797E07038674
chr777599157760169E07039928
chr777603267760493E07040339
chr777604947760902E07040507
chr777207277721611E071740
chr777216377721766E0711650
chr777218167721891E0711829
chr777225477722822E0712560
chr777229417723021E0712954
chr777346437734777E07114656
chr777348397735552E07114852
chr777445277744716E07124540
chr777448767745169E07124889
chr777457517745834E07125764
chr777459617746052E07125974
chr777487007748784E07128713
chr777581847758579E07138197
chr777223157722511E0722328
chr777225477722822E0722560
chr777262127727299E0726225
chr777466527746848E07226665
chr777468987747220E07226911
chr777581847758579E07238197
chr777586617759797E07238674
chr777687527768834E07248765
chr777688877768958E07248900
chr777207277721611E073740
chr777216377721766E0731650
chr777262127727299E0736225
chr777275017727699E0737514
chr777277237727992E0737736
chr777348397735552E07314852
chr776821427682192E074-37795
chr776824707682561E074-37426
chr777193667719679E074-308
chr777205217720654E074534
chr777207277721611E074740
chr777216377721766E0741650
chr777218167721891E0741829
chr777225477722822E0742560
chr777348397735552E07414852
chr777445277744716E07424540
chr777463067746425E07426319
chr777465337746623E07426546
chr777466527746848E07426665
chr777468987747220E07426911
chr777586617759797E07438674
chr777687527768834E07448765
chr777688877768958E07448900
chr777225477722822E0812560
chr777229417723021E0812954
chr777463067746425E08126319
chr777465337746623E08126546
chr777466527746848E08126665
chr777468987747220E08126911
chr777223157722511E0822328
chr777225477722822E0822560
chr777463067746425E08226319
chr777465337746623E08226546
chr777466527746848E08226665
chr777468987747220E08226911
chr777474197747876E08227432
chr777478807747985E08227893










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr776789307681522E067-38465
chr776789307681522E068-38465
chr776789307681522E069-38465
chr776789307681522E070-38465
chr776789307681522E071-38465
chr776789307681522E072-38465
chr776789307681522E073-38465
chr776789307681522E074-38465
chr776789307681522E081-38465
chr776789307681522E082-38465