rs814778

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0150 (4488/29892,GnomAD)
A==0121 (3524/29118,TOPMED)
A==0206 (1032/5008,1000G)
A==0145 (560/3854,ALSPAC)
A==0151 (560/3708,TWINSUK)
chr5:5125559 (GRCh38.p7) (5p15.32)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.5125559A>G
GRCh37.p13 chr 5NC_000005.9:g.5125672A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.051G=0.949
1000GenomesAmericanSub694A=0.180G=0.820
1000GenomesEast AsianSub1008A=0.562G=0.438
1000GenomesEuropeSub1006A=0.158G=0.842
1000GenomesGlobalStudy-wide5008A=0.206G=0.794
1000GenomesSouth AsianSub978A=0.120G=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.145G=0.855
The Genome Aggregation DatabaseAfricanSub8720A=0.080G=0.920
The Genome Aggregation DatabaseAmericanSub834A=0.230G=0.770
The Genome Aggregation DatabaseEast AsianSub1614A=0.513G=0.487
The Genome Aggregation DatabaseEuropeSub18422A=0.146G=0.853
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.150G=0.849
The Genome Aggregation DatabaseOtherSub302A=0.210G=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.121G=0.879
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.151G=0.849
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs8147780.000113alcohol consumption23743675

eQTL of rs814778 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 rs814778 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 )
chr551423025142348E08216630
chr551423585142522E08216686

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr551397345141096E06714062
chr551411475141237E06715475
chr551412925141449E06715620
chr551414815141534E06715809
chr551397345141096E06814062
chr551411475141237E06815475
chr551412925141449E06815620
chr551414815141534E06815809
chr551394135139564E06913741
chr551397345141096E06914062
chr551411475141237E06915475
chr551412925141449E06915620
chr551397345141096E07114062
chr551412925141449E07115620
chr551414815141534E07115809
chr551397345141096E07214062
chr551411475141237E07215475
chr551412925141449E07215620
chr551397345141096E07314062
chr551411475141237E07415475
chr551412925141449E07415620
chr551412925141449E08115620
chr551414815141534E08115809
chr551397345141096E08214062