rs2298753

Homo sapiens
T>C
ADH1C : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0098 (11921/121088,ExAC)
C=0086 (2591/29968,GnomAD)
C=0062 (1829/29118,TOPMED)
T==0071 (929/13006,GO-ESP)
C=0064 (322/5008,1000G)
C=0087 (337/3854,ALSPAC)
C=0090 (335/3708,TWINSUK)
chr4:99336750 (GRCh38.p7) (4q23)
AD
GWASdb2
5   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.99336750T>C
GRCh37.p13 chr 4NC_000004.11:g.100257907T>C
ADH1C RefSeqGeneNG_011718.1:g.21011A>G

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/A3 Prime UTR Variant
ADH1C transcript variant 2NR_133005.1:n.145...NR_133005.1:n.1456A>GA>GNon Coding Transcript Variant
ADH1C transcript variant X2XM_011531589.1:c.N/A3 Prime UTR Variant
ADH1C transcript variant X1XM_011531588.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.993C=0.007
1000GenomesAmericanSub694T=0.900C=0.100
1000GenomesEast AsianSub1008T=0.948C=0.052
1000GenomesEuropeSub1006T=0.911C=0.089
1000GenomesGlobalStudy-wide5008T=0.936C=0.064
1000GenomesSouth AsianSub978T=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.913C=0.087
The Exome Aggregation ConsortiumAmericanSub21840T=0.903C=0.097
The Exome Aggregation ConsortiumAsianSub25126T=0.911C=0.088
The Exome Aggregation ConsortiumEuropeSub73220T=0.897C=0.102
The Exome Aggregation ConsortiumGlobalStudy-wide121088T=0.901C=0.098
The Exome Aggregation ConsortiumOtherSub902T=0.880C=0.120
The Genome Aggregation DatabaseAfricanSub8732T=0.972C=0.028
The Genome Aggregation DatabaseAmericanSub838T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1612T=0.938C=0.062
The Genome Aggregation DatabaseEuropeSub18484T=0.884C=0.115
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.913C=0.086
The Genome Aggregation DatabaseOtherSub302T=0.950C=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.937C=0.062
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.910C=0.090
PMID Title Author Journal
19193628ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.Birley AJHum Mol Genet
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
20089146The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history.Peng YBMC Evol Biol
19298322Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans.Sherva RAlcohol Clin Exp Res
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

P-Value

SNP ID p-value Traits Study
rs22987530.000811alcohol dependence21314694

eQTL of rs2298753 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:100257907ADH1CENSG00000248144.1T>C3.8914e-4-16277Brain_Spinal_cord_cervical

meQTL of rs2298753 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 )
chr4100245602100245886E068-12021
chr4100221669100221897E070-36010
chr4100244954100245162E073-12745
chr4100245344100245493E073-12414
chr4100221669100221897E082-36010
chr4100222048100222444E082-35463