rs6985300

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0275 (8232/29928,GnomAD)
C=0233 (6797/29118,TOPMED)
C=0178 (892/5008,1000G)
C=0310 (1195/3854,ALSPAC)
C=0324 (1201/3708,TWINSUK)
chr8:15498160 (GRCh38.p7) (8p22)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.15498160A>C
GRCh37.p13 chr 8NC_000008.10:g.15355669A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.868C=0.132
1000GenomesAmericanSub694A=0.760C=0.240
1000GenomesEast AsianSub1008A=0.902C=0.098
1000GenomesEuropeSub1006A=0.694C=0.306
1000GenomesGlobalStudy-wide5008A=0.822C=0.178
1000GenomesSouth AsianSub978A=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.690C=0.310
The Genome Aggregation DatabaseAfricanSub8710A=0.830C=0.170
The Genome Aggregation DatabaseAmericanSub834A=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1618A=0.920C=0.080
The Genome Aggregation DatabaseEuropeSub18464A=0.654C=0.345
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.724C=0.275
The Genome Aggregation DatabaseOtherSub302A=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.766C=0.233
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.676C=0.324
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
rs69853000.0000438alcoholismpha002893
rs69853000.000044alcohol dependence20201924
rs69853000.0004alcohol dependence(early age of onset)20201924

eQTL of rs6985300 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 rs6985300 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 )
chr81539953215399720E07043863
chr81539953215399720E08143863
chr81539974815400011E08144079
chr81540053115400665E08144862
chr81539953215399720E08243863
chr81539974815400011E08244079



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr81539722615398673E06741557
chr81539722615398673E06841557
chr81539722615398673E06941557
chr81539722615398673E07041557
chr81539869315399060E07043024
chr81539722615398673E07141557
chr81539722615398673E07241557
chr81539869315399060E07243024
chr81539722615398673E07341557
chr81539722615398673E07441557
chr81539722615398673E08141557
chr81539722615398673E08241557
chr81539869315399060E08243024