rs1000579

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0438 (13121/29926,GnomAD)
G=0442 (12877/29118,TOPMED)
G=0498 (2494/5008,1000G)
G=0388 (1495/3854,ALSPAC)
G=0386 (1430/3708,TWINSUK)
chr4:4717767 (GRCh38.p7) (4p16.2)
AD
GWASCatalog | GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.4717767A>G
GRCh37.p13 chr 4NC_000004.11:g.4719494A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.527G=0.473
1000GenomesAmericanSub694A=0.390G=0.610
1000GenomesEast AsianSub1008A=0.460G=0.540
1000GenomesEuropeSub1006A=0.594G=0.406
1000GenomesGlobalStudy-wide5008A=0.502G=0.498
1000GenomesSouth AsianSub978A=0.490G=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.612G=0.388
The Genome Aggregation DatabaseAfricanSub8708A=0.517G=0.483
The Genome Aggregation DatabaseAmericanSub838A=0.390G=0.610
The Genome Aggregation DatabaseEast AsianSub1616A=0.449G=0.551
The Genome Aggregation DatabaseEuropeSub18464A=0.598G=0.401
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.561G=0.438
The Genome Aggregation DatabaseOtherSub300A=0.670G=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.557G=0.442
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.614G=0.386
PMID Title Author Journal
22004471Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.Frank JAddict Biol
28714907Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.Treutlein JGenes (Basel)

P-Value

SNP ID p-value Traits Study
rs10005792.00E-07alcohol dependence28714907
rs10005790.0000004alcohol dependence22004471

eQTL of rs1000579 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 rs1000579 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 )
chr446959604696550E067-22944
chr446965874696920E067-22574
chr446959604696550E068-22944
chr446959604696550E069-22944
chr446965874696920E069-22574
chr447629634763151E06943469
chr446793014679351E070-40143
chr446794204680271E070-39223
chr446959604696550E070-22944
chr446965874696920E070-22574
chr447213094721425E0701815
chr447215534721619E0702059
chr447605034760589E07041009
chr447611194761245E07041625
chr447617674761856E07042273
chr447629634763151E07043469
chr447632274763632E07043733
chr447639824764070E07044488
chr446955294695692E071-23802
chr446958364695955E071-23539
chr446959604696550E071-22944
chr446965874696920E071-22574
chr447629634763151E07143469
chr447632274763632E07143733
chr446959604696550E072-22944
chr447629634763151E07243469
chr447632274763632E07243733
chr446953994695449E074-24045
chr446955294695692E074-23802
chr446958364695955E074-23539
chr446959604696550E074-22944
chr447632274763632E07443733
chr447639824764070E07444488
chr446793014679351E081-40143
chr446794204680271E081-39223
chr447321044732392E08112610
chr447611194761245E08141625
chr446794204680271E082-39223