rs1557997

Homo sapiens
G>A
RPA3 : Intron Variant
UMAD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0356 (10640/29844,GnomAD)
G==0394 (11477/29118,TOPMED)
G==0338 (1694/5008,1000G)
G==0339 (1308/3854,ALSPAC)
G==0328 (1215/3708,TWINSUK)
chr7:7664329 (GRCh38.p7) (7p21.3)
AD
GWASdb2
2   publication(s)
See rs on genome
104 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.7664329G>A
GRCh37.p13 chr 7NC_000007.13:g.7703960G>A

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
1000GenomesAfricanSub1322G=0.477A=0.523
1000GenomesAmericanSub694G=0.310A=0.690
1000GenomesEast AsianSub1008G=0.165A=0.835
1000GenomesEuropeSub1006G=0.314A=0.686
1000GenomesGlobalStudy-wide5008G=0.338A=0.662
1000GenomesSouth AsianSub978G=0.380A=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.339A=0.661
The Genome Aggregation DatabaseAfricanSub8658G=0.450A=0.550
The Genome Aggregation DatabaseAmericanSub836G=0.290A=0.710
The Genome Aggregation DatabaseEast AsianSub1606G=0.130A=0.870
The Genome Aggregation DatabaseEuropeSub18442G=0.336A=0.663
The Genome Aggregation DatabaseGlobalStudy-wide29844G=0.356A=0.643
The Genome Aggregation DatabaseOtherSub302G=0.270A=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.394A=0.605
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.328A=0.672
PMID Title Author Journal
22102698Genetic variation in nucleotide excision repair pathway genes, pesticide exposure and prostate cancer risk.Barry KHCarcinogenesis
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
rs15579974.6E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs1557997 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 rs1557997 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 )
chr777136927713746E0679732
chr777207277721611E06716767
chr777216377721766E06717677
chr777218167721891E06717856
chr777221267722186E06718166
chr777221897722286E06718229
chr777223157722511E06718355
chr777225477722822E06718587
chr777229417723021E06718981
chr777346437734777E06730683
chr777348397735552E06730879
chr777207277721611E06816767
chr777216377721766E06817677
chr777218167721891E06817856
chr777221267722186E06818166
chr777221897722286E06818229
chr777223157722511E06818355
chr777225477722822E06818587
chr777229417723021E06818981
chr777262127727299E06822252
chr777344897734539E06830529
chr777346437734777E06830683
chr777348397735552E06830879
chr777356307735680E06831670
chr777358267735897E06831866
chr777359547736736E06831994
chr777367747736834E06832814
chr777138627713922E0699902
chr777207277721611E06916767
chr777216377721766E06917677
chr777344897734539E06930529
chr777346437734777E06930683
chr777348397735552E06930879
chr777022937702438E070-1522
chr777275017727699E07023541
chr777410637741133E07037103
chr777411997741305E07037239
chr777413627741477E07037402
chr777435057743575E07039545
chr777445277744716E07040567
chr777448767745169E07040916
chr777459617746052E07042001
chr777463067746425E07042346
chr777465337746623E07042573
chr777466527746848E07042692
chr777468987747220E07042938
chr777480377748104E07044077
chr777481407748271E07044180
chr777485057748555E07044545
chr777485817748631E07044621
chr777487007748784E07044740
chr777488357749367E07044875
chr777494197749523E07045459
chr777207277721611E07116767
chr777216377721766E07117677
chr777218167721891E07117856
chr777225477722822E07118587
chr777229417723021E07118981
chr777346437734777E07130683
chr777348397735552E07130879
chr777445277744716E07140567
chr777448767745169E07140916
chr777457517745834E07141791
chr777459617746052E07142001
chr777487007748784E07144740
chr777223157722511E07218355
chr777225477722822E07218587
chr777262127727299E07222252
chr777466527746848E07242692
chr777468987747220E07242938
chr777207277721611E07316767
chr777216377721766E07317677
chr777262127727299E07322252
chr777275017727699E07323541
chr777277237727992E07323763
chr777348397735552E07330879
chr776821427682192E074-21768
chr776824707682561E074-21399
chr777193667719679E07415406
chr777205217720654E07416561
chr777207277721611E07416767
chr777216377721766E07417677
chr777218167721891E07417856
chr777225477722822E07418587
chr777348397735552E07430879
chr777445277744716E07440567
chr777463067746425E07442346
chr777465337746623E07442573
chr777466527746848E07442692
chr777468987747220E07442938
chr777225477722822E08118587
chr777229417723021E08118981
chr777463067746425E08142346
chr777465337746623E08142573
chr777466527746848E08142692
chr777468987747220E08142938
chr777223157722511E08218355
chr777225477722822E08218587
chr777463067746425E08242346
chr777465337746623E08242573
chr777466527746848E08242692
chr777468987747220E08242938
chr777474197747876E08243459
chr777478807747985E08243920










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr776789307681522E067-22438
chr776789307681522E068-22438
chr776789307681522E069-22438
chr776789307681522E070-22438
chr776789307681522E071-22438
chr776789307681522E072-22438
chr776789307681522E073-22438
chr776789307681522E074-22438
chr776789307681522E081-22438
chr776789307681522E082-22438