rs4813680

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0176 (5217/29494,GnomAD)
A=0181 (5288/29118,TOPMED)
A=0193 (969/5008,1000G)
A=0145 (559/3854,ALSPAC)
A=0140 (520/3708,TWINSUK)
chr20:4259770 (GRCh38.p7) (20p13)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.4259770C>A
GRCh37.p13 chr 20NC_000020.10:g.4240417C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.808A=0.192
1000GenomesAmericanSub694C=0.800A=0.200
1000GenomesEast AsianSub1008C=0.690A=0.310
1000GenomesEuropeSub1006C=0.872A=0.128
1000GenomesGlobalStudy-wide5008C=0.807A=0.193
1000GenomesSouth AsianSub978C=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.855A=0.145
The Genome Aggregation DatabaseAfricanSub8630C=0.814A=0.186
The Genome Aggregation DatabaseAmericanSub814C=0.830A=0.170
The Genome Aggregation DatabaseEast AsianSub1602C=0.692A=0.308
The Genome Aggregation DatabaseEuropeSub18148C=0.837A=0.162
The Genome Aggregation DatabaseGlobalStudy-wide29494C=0.823A=0.176
The Genome Aggregation DatabaseOtherSub300C=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.818A=0.181
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.860A=0.140
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
rs48136800.000083alcohol dependence20201924
rs48136800.0000833alcoholismpha002893

eQTL of rs4813680 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 rs4813680 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 )
chr2042851374285494E07144720
chr2042855494285640E07145132
chr2042857984285999E07145381
chr2042061164207334E073-33083
chr2042074344207727E073-32690
chr2042077654208174E073-32243
chr2042395414239591E081-826
chr2042397664239816E081-601
chr2042845744284686E08144157
chr2042309414231189E082-9228
chr2042845744284686E08244157




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2042017224202578E068-37839
chr2042025974202772E068-37645
chr2042295524230603E069-9814
chr2042017224202578E071-37839
chr2042025974202772E071-37645
chr2042295524230603E071-9814
chr2042017224202578E072-37839
chr2042017224202578E074-37839
chr2042017224202578E082-37839
chr2042025974202772E082-37645
chr2042295524230603E082-9814