rs1693457

Homo sapiens
C>T
ADH1B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0186 (5585/29950,GnomAD)
C==0202 (5900/29118,TOPMED)
C==0173 (868/5008,1000G)
C==0169 (651/3854,ALSPAC)
C==0168 (624/3708,TWINSUK)
chr4:99315605 (GRCh38.p7) (4q23)
AD
GWASCatalog
4   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.99315605C>T
GRCh37.p13 chr 4NC_000004.11:g.100236762C>T
ADH1B RefSeqGeneNG_011435.1:g.10811G>A

Gene: ADH1B, alcohol dehydrogenase 1B (class I), beta polypeptide(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADH1B transcript variant 1NM_000668.5:c.N/AIntron Variant
ADH1B transcript variant 2NM_001286650.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.204T=0.796
1000GenomesAmericanSub694C=0.190T=0.810
1000GenomesEast AsianSub1008C=0.085T=0.915
1000GenomesEuropeSub1006C=0.152T=0.848
1000GenomesGlobalStudy-wide5008C=0.173T=0.827
1000GenomesSouth AsianSub978C=0.230T=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.169T=0.831
The Genome Aggregation DatabaseAfricanSub8708C=0.232T=0.768
The Genome Aggregation DatabaseAmericanSub836C=0.200T=0.800
The Genome Aggregation DatabaseEast AsianSub1620C=0.088T=0.912
The Genome Aggregation DatabaseEuropeSub18484C=0.174T=0.826
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.186T=0.813
The Genome Aggregation DatabaseOtherSub302C=0.150T=0.850
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.202T=0.797
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.168T=0.832
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
29071344Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.Zhou HJAMA Psychiatry
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
26849558Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study.Vu KNPLoS One

P-Value

SNP ID p-value Traits Study
rs16934573.00E-12alcohol dependence(AA)24166409
rs16934572.00E-09alcohol dependence(EA)24166409
rs16934574.00E-06alcohol dependence(ALL)24166409
rs16934577.00E-06alcohol dependence29071344

eQTL of rs1693457 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 rs1693457 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 )
chr4100245602100245886E0688840
chr4100221669100221897E070-14865
chr4100244954100245162E0738192
chr4100245344100245493E0738582
chr4100221669100221897E082-14865
chr4100222048100222444E082-14318