rs11944702

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0116 (3493/29928,GnomAD)
C=0147 (4308/29118,TOPMED)
C=0151 (754/5008,1000G)
C=0039 (150/3854,ALSPAC)
C=0039 (143/3708,TWINSUK)
chr4:31659117 (GRCh38.p7) (4p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.31659117T>C
GRCh37.p13 chr 4NC_000004.11:g.31660739T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.733C=0.267
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.812C=0.188
1000GenomesEuropeSub1006T=0.954C=0.046
1000GenomesGlobalStudy-wide5008T=0.849C=0.151
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.961C=0.039
The Genome Aggregation DatabaseAfricanSub8694T=0.749C=0.251
The Genome Aggregation DatabaseAmericanSub838T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1608T=0.774C=0.226
The Genome Aggregation DatabaseEuropeSub18488T=0.953C=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.883C=0.116
The Genome Aggregation DatabaseOtherSub300T=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.852C=0.147
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.961C=0.039
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
rs119447020.000452alcohol dependence24277619

eQTL of rs11944702 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 rs11944702 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 )
chr43168003931680288E08119300
chr43166370731664088E0822968