rs2493600

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0291 (8727/29912,GnomAD)
T=0245 (7159/29118,TOPMED)
T=0271 (1359/5008,1000G)
T=0380 (1466/3854,ALSPAC)
T=0380 (1408/3708,TWINSUK)
chr9:79206176 (GRCh38.p7) (9q21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.79206176C>T
GRCh37.p13 chr 9NC_000009.11:g.81821091C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.892T=0.108
1000GenomesAmericanSub694C=0.780T=0.220
1000GenomesEast AsianSub1008C=0.725T=0.275
1000GenomesEuropeSub1006C=0.629T=0.371
1000GenomesGlobalStudy-wide5008C=0.729T=0.271
1000GenomesSouth AsianSub978C=0.580T=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.620T=0.380
The Genome Aggregation DatabaseAfricanSub8730C=0.866T=0.134
The Genome Aggregation DatabaseAmericanSub838C=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1590C=0.713T=0.287
The Genome Aggregation DatabaseEuropeSub18452C=0.631T=0.368
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.708T=0.291
The Genome Aggregation DatabaseOtherSub302C=0.730T=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.754T=0.245
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.620T=0.380
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
rs24936000.000916alcohol consumption (maxi-drinks)24277619

eQTL of rs2493600 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 rs2493600 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 )
chr98187057081870624E07049479
chr98187062681870676E07049535
chr98187076481870820E07049673
chr98187089181870940E07049800
chr98187062681870676E07149535
chr98187076481870820E07149673
chr98182372281823895E0812631
chr98182403081824172E0812939
chr98186896581869031E08147874
chr98186915781869207E08148066
chr98186992781870077E08148836
chr98187017181870437E08149080
chr98187057081870624E08149479
chr98187062681870676E08149535
chr98187076481870820E08149673
chr98187089181870940E08149800
chr98186992781870077E08248836
chr98187017181870437E08249080
chr98187057081870624E08249479
chr98187062681870676E08249535
chr98187076481870820E08249673
chr98187089181870940E08249800