rs7246048

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0083 (2503/29976,GnomAD)
C=0090 (2631/29118,TOPMED)
C=0063 (315/5008,1000G)
C=0059 (229/3854,ALSPAC)
C=0057 (211/3708,TWINSUK)
chr19:22592832 (GRCh38.p7) (19p12)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
49 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.22592832T>C
GRCh37.p13 chr 19NC_000019.9:g.22775634T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.889C=0.111
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.991C=0.009
1000GenomesEuropeSub1006T=0.942C=0.058
1000GenomesGlobalStudy-wide5008T=0.937C=0.063
1000GenomesSouth AsianSub978T=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.941C=0.059
The Genome Aggregation DatabaseAfricanSub8718T=0.882C=0.118
The Genome Aggregation DatabaseAmericanSub838T=0.980C=0.020
The Genome Aggregation DatabaseEast AsianSub1622T=0.992C=0.008
The Genome Aggregation DatabaseEuropeSub18496T=0.922C=0.077
The Genome Aggregation DatabaseGlobalStudy-wide29976T=0.916C=0.083
The Genome Aggregation DatabaseOtherSub302T=0.950C=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.909C=0.090
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.943C=0.057
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs72460489.35E-05alcohol consumption23953852

eQTL of rs7246048 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 rs7246048 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 )
chr192280414422804194E06828510
chr192280727522807315E06831641

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr192280622722806451E06730593
chr192280651322806574E06730879
chr192281644422816536E06740810
chr192281668422816741E06741050
chr192281677622817417E06741142
chr192281742722817548E06741793
chr192280622722806451E06830593
chr192280651322806574E06830879
chr192281644422816536E06840810
chr192281668422816741E06841050
chr192281677622817417E06841142
chr192281742722817548E06841793
chr192281770722817797E06842073
chr192280622722806451E06930593
chr192280651322806574E06930879
chr192281644422816536E06940810
chr192281668422816741E06941050
chr192281677622817417E06941142
chr192281742722817548E06941793
chr192281644422816536E07040810
chr192281668422816741E07041050
chr192281677622817417E07041142
chr192281742722817548E07041793
chr192281770722817797E07042073
chr192280622722806451E07130593
chr192280651322806574E07130879
chr192281644422816536E07140810
chr192281668422816741E07141050
chr192281677622817417E07141142
chr192281742722817548E07141793
chr192281644422816536E07240810
chr192281668422816741E07241050
chr192281677622817417E07241142
chr192281742722817548E07241793
chr192280651322806574E07330879
chr192281668422816741E07341050
chr192281677622817417E07341142
chr192281742722817548E07341793
chr192281677622817417E07441142
chr192281742722817548E07441793
chr192281644422816536E08140810
chr192281668422816741E08141050
chr192281677622817417E08141142
chr192281742722817548E08141793
chr192281644422816536E08240810
chr192281668422816741E08241050
chr192281677622817417E08241142
chr192281742722817548E08241793
chr192281770722817797E08242073