rs6799277

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0264 (7913/29894,GnomAD)
C==0317 (9232/29118,TOPMED)
C==0298 (1493/5008,1000G)
C==0156 (600/3854,ALSPAC)
C==0159 (590/3708,TWINSUK)
chr3:110255229 (GRCh38.p7) (3q13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.110255229C>T
GRCh37.p13 chr 3NC_000003.11:g.109974076C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.566T=0.434
1000GenomesAmericanSub694C=0.230T=0.770
1000GenomesEast AsianSub1008C=0.206T=0.794
1000GenomesEuropeSub1006C=0.176T=0.824
1000GenomesGlobalStudy-wide5008C=0.298T=0.702
1000GenomesSouth AsianSub978C=0.210T=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.156T=0.844
The Genome Aggregation DatabaseAfricanSub8692C=0.518T=0.482
The Genome Aggregation DatabaseAmericanSub838C=0.210T=0.790
The Genome Aggregation DatabaseEast AsianSub1616C=0.199T=0.801
The Genome Aggregation DatabaseEuropeSub18446C=0.153T=0.846
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.264T=0.735
The Genome Aggregation DatabaseOtherSub302C=0.240T=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.317T=0.682
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.159T=0.841
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
rs67992770.000703alcohol consumption (maxi-drinks)24277619

eQTL of rs6799277 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 rs6799277 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 )
chr3110001899110002049E07027823
chr3109955692109956302E081-17774
chr3110001899110002049E08127823
chr3109955692109956302E082-17774
chr3110002429110002610E08228353