rs4798993

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0177 (5318/29930,GnomAD)
T=0122 (3553/29118,TOPMED)
T=0109 (544/5008,1000G)
T=0225 (867/3854,ALSPAC)
T=0229 (850/3708,TWINSUK)
chr18:78124353 (GRCh38.p7) (18q23)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.78124353C>T
GRCh37.p13 chr 18NC_000018.9:g.75884353C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.995T=0.005
1000GenomesAmericanSub694C=0.810T=0.190
1000GenomesEast AsianSub1008C=0.900T=0.100
1000GenomesEuropeSub1006C=0.818T=0.182
1000GenomesGlobalStudy-wide5008C=0.891T=0.109
1000GenomesSouth AsianSub978C=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.775T=0.225
The Genome Aggregation DatabaseAfricanSub8716C=0.962T=0.038
The Genome Aggregation DatabaseAmericanSub838C=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1616C=0.913T=0.087
The Genome Aggregation DatabaseEuropeSub18458C=0.747T=0.253
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.822T=0.177
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.878T=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.771T=0.229
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs47989930.000739alcohol consumption (maxi-drinks)24277619

eQTL of rs4798993 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 rs4798993 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 )
chr187589896875899496E06714615
chr187589959675899711E06715243
chr187589809275898142E06813739
chr187589809275898142E06913739
chr187589831275898427E06913959
chr187589847875898541E06914125
chr187589959675899711E06915243
chr187583458075834920E070-49433
chr187589896875899496E07014615
chr187589959675899711E07015243
chr187589983675899886E07015483
chr187589994875900010E07015595
chr187589831275898427E07113959
chr187589847875898541E07114125
chr187589831275898427E07213959
chr187589847875898541E07214125
chr187589831275898427E07313959
chr187589847875898541E07314125
chr187589847875898541E07414125
chr187589896875899496E07414615
chr187589959675899711E07415243








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr187584832375848373E081-35980