rs55996493

Homo sapiens
G>A / G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0047 (1411/29950,GnomAD)
T=0044 (1282/29118,TOPMED)
T=0034 (170/5008,1000G)
T=0060 (231/3854,ALSPAC)
T=0061 (226/3708,TWINSUK)
chr13:87264075 (GRCh38.p7) (13q31.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.87264075G>A
GRCh38.p7 chr 13NC_000013.11:g.87264075G>T
GRCh37.p13 chr 13NC_000013.10:g.87916330G>A
GRCh37.p13 chr 13NC_000013.10:g.87916330G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.984A=0.000
1000GenomesAmericanSub694G=0.960A=0.00,
1000GenomesEast AsianSub1008G=0.980A=0.007
1000GenomesEuropeSub1006G=0.938A=0.000
1000GenomesGlobalStudy-wide5008G=0.965A=0.001
1000GenomesSouth AsianSub978G=0.950A=0.00,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.940T=0.060
The Genome Aggregation DatabaseAfricanSub8728G=0.979T=0.021
The Genome Aggregation DatabaseAmericanSub838G=0.970T=0.03,
The Genome Aggregation DatabaseEast AsianSub1620G=0.973T=0.020
The Genome Aggregation DatabaseEuropeSub18462G=0.938T=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.952T=0.047
The Genome Aggregation DatabaseOtherSub302G=0.880T=0.12,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.956T=0.044
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.939T=0.061
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
rs559964930.000248alcohol consumption23743675

eQTL of rs55996493 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 rs55996493 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.