rs6827883

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0177 (5316/29922,GnomAD)
T=0244 (7127/29118,TOPMED)
T=0236 (1183/5008,1000G)
T=0050 (194/3854,ALSPAC)
T=0053 (195/3708,TWINSUK)
chr4:33442785 (GRCh38.p7) (4p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.33442785C>T
GRCh37.p13 chr 4NC_000004.11:g.33444407C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.489T=0.511
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.937T=0.063
1000GenomesEuropeSub1006C=0.946T=0.054
1000GenomesGlobalStudy-wide5008C=0.764T=0.236
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.950T=0.050
The Genome Aggregation DatabaseAfricanSub8704C=0.565T=0.435
The Genome Aggregation DatabaseAmericanSub836C=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1620C=0.925T=0.075
The Genome Aggregation DatabaseEuropeSub18460C=0.932T=0.067
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.822T=0.177
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.755T=0.244
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.947T=0.053
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
rs68278830.000226alcohol consumption (maxi-drinks)24277619

eQTL of rs6827883 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 rs6827883 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 )
chr43343912333439329E070-5078