rs1721078

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0104 (3137/29978,GnomAD)
A==0145 (4225/29118,TOPMED)
A==0107 (538/5008,1000G)
A==0032 (122/3854,ALSPAC)
A==0035 (129/3708,TWINSUK)
chr8:16973425 (GRCh38.p7) (8p22)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.16973425A>G
GRCh37.p13 chr 8NC_000008.10:g.16830934A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.292G=0.708
1000GenomesAmericanSub694A=0.050G=0.950
1000GenomesEast AsianSub1008A=0.071G=0.929
1000GenomesEuropeSub1006A=0.038G=0.962
1000GenomesGlobalStudy-wide5008A=0.107G=0.893
1000GenomesSouth AsianSub978A=0.010G=0.990
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.032G=0.968
The Genome Aggregation DatabaseAfricanSub8722A=0.268G=0.732
The Genome Aggregation DatabaseAmericanSub838A=0.050G=0.950
The Genome Aggregation DatabaseEast AsianSub1620A=0.094G=0.906
The Genome Aggregation DatabaseEuropeSub18496A=0.032G=0.967
The Genome Aggregation DatabaseGlobalStudy-wide29978A=0.104G=0.895
The Genome Aggregation DatabaseOtherSub302A=0.010G=0.990
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.145G=0.854
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.035G=0.965
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
rs17210780.000567alcohol dependence24277619

eQTL of rs1721078 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 rs1721078 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 )
chr81685470716855098E07423773
chr81685510716855236E07424173

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr81685815416860399E06727220
chr81685815416860399E06827220
chr81687047816871142E06839544
chr81685815416860399E06927220
chr81685815416860399E07027220
chr81685815416860399E07127220
chr81685815416860399E07227220
chr81685815416860399E07327220
chr81685815416860399E07427220