rs1614972

Homo sapiens
C>T
ADH1C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0373 (11182/29914,GnomAD)
T=0419 (12211/29118,TOPMED)
C==0480 (2402/5008,1000G)
T=0316 (1217/3854,ALSPAC)
T=0290 (1076/3708,TWINSUK)
chr4:99336998 (GRCh38.p7) (4q23)
AD
GWASCatalog
9   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99336998C>T
GRCh37.p13 chr 4NC_000004.11:g.100258155C>T
ADH1C RefSeqGeneNG_011718.1:g.20763G>A

Gene: ADH1C, alcohol dehydrogenase 1C (class I), gamma polypeptide(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADH1C transcript variant 1NM_000669.4:c.N/AIntron Variant
ADH1C transcript variant 2NR_133005.1:n.N/AIntron Variant
ADH1C transcript variant X1XM_011531588.2:c.N/AIntron Variant
ADH1C transcript variant X2XM_011531589.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.429T=0.571
1000GenomesAmericanSub694C=0.770T=0.230
1000GenomesEast AsianSub1008C=0.236T=0.764
1000GenomesEuropeSub1006C=0.677T=0.323
1000GenomesGlobalStudy-wide5008C=0.480T=0.520
1000GenomesSouth AsianSub978C=0.390T=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.684T=0.316
The Genome Aggregation DatabaseAfricanSub8710C=0.482T=0.518
The Genome Aggregation DatabaseAmericanSub838C=0.790T=0.210
The Genome Aggregation DatabaseEast AsianSub1612C=0.268T=0.732
The Genome Aggregation DatabaseEuropeSub18452C=0.717T=0.282
The Genome Aggregation DatabaseGlobalStudy-wide29914C=0.626T=0.373
The Genome Aggregation DatabaseOtherSub302C=0.700T=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.580T=0.419
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.710T=0.290
PMID Title Author Journal
24166409Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.Gelernter JMol Psychiatry
21083667Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations.Liu JAlcohol Clin Exp Res
19298322Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans.Sherva RAlcohol Clin Exp Res
21635275Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample.Gizer IRAlcohol Clin Exp Res
22281715Recent advances in the genetic epidemiology and molecular genetics of substance use disorders.Kendler KSNat Neurosci
20089146The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history.Peng YBMC Evol Biol
21940907Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer.Hakenewerth AMCancer Epidemiol Biomarkers Prev
21497796Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases.Li DBiol Psychiatry
18331377Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample.Kuo PHAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs16149723.00E-09alcohol dependence24166409
rs16149724.00E-07alcohol dependence24166409

eQTL of rs1614972 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 rs1614972 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 )
chr4100245602100245886E068-12269
chr4100221669100221897E070-36258
chr4100244954100245162E073-12993
chr4100245344100245493E073-12662
chr4100221669100221897E082-36258
chr4100222048100222444E082-35711