rs6534762

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0428 (12821/29898,GnomAD)
A==0374 (10912/29118,TOPMED)
A==0382 (1914/5008,1000G)
G=0454 (1750/3854,ALSPAC)
G=0439 (1629/3708,TWINSUK)
chr4:130057834 (GRCh38.p7) (4q28.2)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.130057834A>G
GRCh37.p13 chr 4NC_000004.11:g.130978989A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.100G=0.900
1000GenomesAmericanSub694A=0.450G=0.550
1000GenomesEast AsianSub1008A=0.334G=0.666
1000GenomesEuropeSub1006A=0.557G=0.443
1000GenomesGlobalStudy-wide5008A=0.382G=0.618
1000GenomesSouth AsianSub978A=0.590G=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.546G=0.454
The Genome Aggregation DatabaseAfricanSub8708A=0.164G=0.836
The Genome Aggregation DatabaseAmericanSub836A=0.450G=0.550
The Genome Aggregation DatabaseEast AsianSub1608A=0.349G=0.651
The Genome Aggregation DatabaseEuropeSub18444A=0.557G=0.442
The Genome Aggregation DatabaseGlobalStudy-wide29898A=0.428G=0.571
The Genome Aggregation DatabaseOtherSub302A=0.550G=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.374G=0.625
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.561G=0.439
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
rs65347622.9E-05alcohol dependence24277619

eQTL of rs6534762 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 rs6534762 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 )
chr4131020256131020564E06841267
chr4130931090130931253E072-47736
chr4130931640130931727E072-47262
chr4131008582131008684E08129593
chr4131008889131009244E08129900