rs2397990

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0496 (14817/29842,GnomAD)
C==0496 (14453/29118,TOPMED)
T=0472 (2365/5008,1000G)
C==0471 (1815/3854,ALSPAC)
C==0481 (1783/3708,TWINSUK)
chr10:4786911 (GRCh38.p7) (10p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.4786911C>T
GRCh37.p13 chr 10NC_000010.10:g.4829103C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.452T=0.548
1000GenomesAmericanSub694C=0.550T=0.450
1000GenomesEast AsianSub1008C=0.690T=0.310
1000GenomesEuropeSub1006C=0.502T=0.498
1000GenomesGlobalStudy-wide5008C=0.528T=0.472
1000GenomesSouth AsianSub978C=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.471T=0.529
The Genome Aggregation DatabaseAfricanSub8696C=0.463T=0.537
The Genome Aggregation DatabaseAmericanSub836C=0.550T=0.450
The Genome Aggregation DatabaseEast AsianSub1616C=0.723T=0.277
The Genome Aggregation DatabaseEuropeSub18392C=0.490T=0.509
The Genome Aggregation DatabaseGlobalStudy-wide29842C=0.496T=0.503
The Genome Aggregation DatabaseOtherSub302C=0.470T=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.496T=0.503
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.481T=0.519
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs23979900.000229alcohol dependence20201924

eQTL of rs2397990 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 rs2397990 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 )
chr1048629444863685E06833841
chr1048629444863685E06933841
chr1048057814805973E070-23130
chr1048102614810376E070-18727
chr1048521554852205E07023052
chr1048522654852616E07023162
chr1048629444863685E07133841
chr1048629444863685E07233841
chr1048629444863685E07333841
chr1048629444863685E07433841
chr1048084004808471E081-20632
chr1048085854810147E081-18956
chr1048102614810376E081-18727
chr1048104154810732E081-18371
chr1048108234811075E081-18028
chr1048696634869713E08140560
chr1048697144869788E08140611
chr1048699584870047E08140855
chr1048703024870437E08141199
chr1048704704870514E08141367
chr1048084004808471E082-20632
chr1048085854810147E082-18956









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1048676554867834E06738552
chr1048679084869258E06738805
chr1048676554867834E06838552
chr1048679084869258E06838805
chr1048679084869258E06938805
chr1048679084869258E07038805
chr1048679084869258E07138805
chr1048676554867834E07238552
chr1048679084869258E07238805
chr1048676554867834E07338552
chr1048679084869258E07338805
chr1048679084869258E07438805
chr1048676554867834E08238552
chr1048679084869258E08238805