rs537069

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0427 (12757/29860,GnomAD)
G==0460 (13410/29118,TOPMED)
G==0460 (2304/5008,1000G)
A=0292 (1127/3854,ALSPAC)
A=0288 (1067/3708,TWINSUK)
chr18:24509280 (GRCh38.p7) (18q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.24509280G>A
GRCh37.p13 chr 18NC_000018.9:g.22089244G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.141A=0.859
1000GenomesAmericanSub694G=0.650A=0.350
1000GenomesEast AsianSub1008G=0.342A=0.658
1000GenomesEuropeSub1006G=0.717A=0.283
1000GenomesGlobalStudy-wide5008G=0.460A=0.540
1000GenomesSouth AsianSub978G=0.610A=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.708A=0.292
The Genome Aggregation DatabaseAfricanSub8692G=0.221A=0.779
The Genome Aggregation DatabaseAmericanSub834G=0.660A=0.340
The Genome Aggregation DatabaseEast AsianSub1610G=0.319A=0.681
The Genome Aggregation DatabaseEuropeSub18422G=0.755A=0.244
The Genome Aggregation DatabaseGlobalStudy-wide29860G=0.572A=0.427
The Genome Aggregation DatabaseOtherSub302G=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.460A=0.539
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.712A=0.288
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
rs5370699.1E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs537069 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr18:22089244RP11-178F10.3ENSG00000266489.1G>A0.0000e+0-8726Cortex

meQTL of rs537069 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 )
chr182207671022077550E067-11694
chr182209536322095413E0676119
chr182208267222082919E069-6325
chr182207671022077550E071-11694
chr182207671022077550E072-11694
chr182207777022077820E072-11424
chr182207873122078783E072-10461
chr182208568222086004E072-3240
chr182208633122086433E072-2811
chr182206767122068135E073-21109
chr182206814022068320E073-20924
chr182207671022077550E073-11694
chr182207777022077820E073-11424
chr182212025322120484E07331009
chr182212051422120594E07331270
chr182212073922120779E07331495
chr182206767122068135E074-21109
chr182206814022068320E074-20924
chr182206871222069357E074-19887
chr182206767122068135E081-21109
chr182206814022068320E081-20924