rs518587

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0394 (11812/29910,GnomAD)
A==0354 (10316/29118,TOPMED)
A==0489 (2447/5008,1000G)
A==0392 (1512/3854,ALSPAC)
A==0387 (1434/3708,TWINSUK)
chr6:23934217 (GRCh38.p7) (6p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.23934217A>G
GRCh37.p13 chr 6NC_000006.11:g.23934445A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.233G=0.767
1000GenomesAmericanSub694A=0.570G=0.430
1000GenomesEast AsianSub1008A=0.650G=0.350
1000GenomesEuropeSub1006A=0.431G=0.569
1000GenomesGlobalStudy-wide5008A=0.489G=0.511
1000GenomesSouth AsianSub978A=0.670G=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.392G=0.608
The Genome Aggregation DatabaseAfricanSub8722A=0.251G=0.749
The Genome Aggregation DatabaseAmericanSub836A=0.580G=0.420
The Genome Aggregation DatabaseEast AsianSub1604A=0.681G=0.319
The Genome Aggregation DatabaseEuropeSub18446A=0.429G=0.571
The Genome Aggregation DatabaseGlobalStudy-wide29910A=0.394G=0.605
The Genome Aggregation DatabaseOtherSub302A=0.450G=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.354G=0.645
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.387G=0.613
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
rs5185870.000895alcohol dependence20201924

eQTL of rs518587 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 rs518587 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 )
chr62395250923952986E08118064
chr62395250923952986E08218064