rs1030565

Homo sapiens
A>C / A>T
None
Check p-value
SNV (Single Nucleotide Variation)
A==0316 (9458/29894,GnomAD)
A==0375 (10932/29118,TOPMED)
A==0325 (1629/5008,1000G)
chr18:76051715 (GRCh38.p7) (18q23)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.76051715A>C
GRCh38.p7 chr 18NC_000018.10:g.76051715A>T
GRCh37.p13 chr 18NC_000018.9:g.73763670A>C
GRCh37.p13 chr 18NC_000018.9:g.73763670A>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.616C=0.384
1000GenomesAmericanSub694A=0.230C=0.770
1000GenomesEast AsianSub1008A=0.284C=0.716
1000GenomesEuropeSub1006A=0.194C=0.806
1000GenomesGlobalStudy-wide5008A=0.325C=0.675
1000GenomesSouth AsianSub978A=0.170C=0.830
The Genome Aggregation DatabaseAfricanSub8700A=0.552T=0.000
The Genome Aggregation DatabaseAmericanSub838A=0.230T=0.00,
The Genome Aggregation DatabaseEast AsianSub1618A=0.284T=0.000
The Genome Aggregation DatabaseEuropeSub18436A=0.214T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29894A=0.316T=0.000
The Genome Aggregation DatabaseOtherSub302A=0.140T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.375C=0.624
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
rs10305650.000205alcohol dependence24277619

eQTL of rs1030565 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 rs1030565 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 )
chr187376284873763234E0714745
chr187375255373753170E081-4933
chr187375397573754047E081-4056
chr187376426773764394E0816164
chr187376447873764678E0816375
chr187376284873763234E0824745
chr187376332473764158E0825221