rs1512791

Homo sapiens
A>C / A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0112 (3368/29944,GnomAD)
G=0082 (412/5008,1000G)
G=0089 (342/3854,ALSPAC)
G=0094 (348/3708,TWINSUK)
chr8:5723239 (GRCh38.p7) (8p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.5723239A>C
GRCh38.p7 chr 8NC_000008.11:g.5723239A>G
GRCh37.p13 chr 8NC_000008.10:g.5580761A>C
GRCh37.p13 chr 8NC_000008.10:g.5580761A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.781G=0.219
1000GenomesAmericanSub694A=0.950G=0.050
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=0.928G=0.072
1000GenomesGlobalStudy-wide5008A=0.918G=0.082
1000GenomesSouth AsianSub978A=0.980G=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.911G=0.089
The Genome Aggregation DatabaseAfricanSub8716A=0.810C=0.000
The Genome Aggregation DatabaseAmericanSub838A=0.940C=0.00,
The Genome Aggregation DatabaseEast AsianSub1620A=0.999C=0.000
The Genome Aggregation DatabaseEuropeSub18468A=0.911C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29944A=0.887C=0.000
The Genome Aggregation DatabaseOtherSub302A=0.920C=0.00,
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.906G=0.094
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
rs15127910.00036alcohol dependence20201924

eQTL of rs1512791 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 rs1512791 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 )
chr8107199075107199202E06911731
chr8107199250107199409E06911906
chr8107199566107199629E06912222
chr8107200244107200306E07012900
chr8107200400107200450E07013056
chr8107200582107200622E07013238
chr8107231010107231149E07143666
chr8107231243107231333E07143899
chr8107149220107149501E081-37843
chr8107149644107149945E081-37399
chr8107149644107149945E082-37399