rs2241894

Homo sapiens
T>A / T>C
ADH1C : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0308 (37481/121370,ExAC)
C=0309 (9251/29918,GnomAD)
C=0344 (10042/29118,TOPMED)
T==0301 (3916/13006,GO-ESP)
C=0472 (2362/5008,1000G)
C=0249 (960/3854,ALSPAC)
C=0223 (826/3708,TWINSUK)
chr4:99344976 (GRCh38.p7) (4q23)
AD
GWASCatalog
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.99344976T>A
GRCh38.p7 chr 4NC_000004.12:g.99344976T>C
GRCh37.p13 chr 4NC_000004.11:g.100266133T>A
GRCh37.p13 chr 4NC_000004.11:g.100266133T>C
ADH1C RefSeqGeneNG_011718.1:g.12785A>T
ADH1C RefSeqGeneNG_011718.1:g.12785A>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.453A>TT [ACA]> T [ACT]Coding Sequence Variant
alcohol dehydrogenase 1CNP_000660.1:p.Thr...NP_000660.1:p.Thr151=T [Thr]> T [Thr]Synonymous Variant
ADH1C transcript variant 1NM_000669.4:c.453A>GT [ACA]> T [ACG]Coding Sequence Variant
alcohol dehydrogenase 1CNP_000660.1:p.Thr...NP_000660.1:p.Thr151=T [Thr]> T [Thr]Synonymous Variant
ADH1C transcript variant 2NR_133005.1:n.823A>TA>TNon Coding Transcript Variant
ADH1C transcript variant 2NR_133005.1:n.823A>GA>GNon Coding Transcript Variant
ADH1C transcript variant X2XM_011531589.1:c....XM_011531589.1:c.333A>TT [ACA]> T [ACT]Coding Sequence Variant
alcohol dehydrogenase 1C isoform X2XP_011529891.1:p....XP_011529891.1:p.Thr111=T [Thr]> T [Thr]Synonymous Variant
ADH1C transcript variant X2XM_011531589.1:c....XM_011531589.1:c.333A>GT [ACA]> T [ACG]Coding Sequence Variant
alcohol dehydrogenase 1C isoform X2XP_011529891.1:p....XP_011529891.1:p.Thr111=T [Thr]> T [Thr]Synonymous Variant
ADH1C transcript variant X1XM_011531588.2:c....XM_011531588.2:c.351A>TT [ACA]> T [ACT]Coding Sequence Variant
alcohol dehydrogenase 1C isoform X1XP_011529890.1:p....XP_011529890.1:p.Thr117=T [Thr]> T [Thr]Synonymous Variant
ADH1C transcript variant X1XM_011531588.2:c....XM_011531588.2:c.351A>GT [ACA]> T [ACG]Coding Sequence Variant
alcohol dehydrogenase 1C isoform X1XP_011529890.1:p....XP_011529890.1:p.Thr117=T [Thr]> T [Thr]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.505C=0.495
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.236C=0.764
1000GenomesEuropeSub1006T=0.769C=0.231
1000GenomesGlobalStudy-wide5008T=0.528C=0.472
1000GenomesSouth AsianSub978T=0.400C=0.600
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.751C=0.249
The Exome Aggregation ConsortiumAmericanSub21974T=0.722C=0.277
The Exome Aggregation ConsortiumAsianSub25144T=0.404C=0.595
The Exome Aggregation ConsortiumEuropeSub73344T=0.779C=0.220
The Exome Aggregation ConsortiumGlobalStudy-wide121370T=0.691C=0.308
The Exome Aggregation ConsortiumOtherSub908T=0.780C=0.220
The Genome Aggregation DatabaseAfricanSub8706T=0.544C=0.456
The Genome Aggregation DatabaseAmericanSub832T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1610T=0.268C=0.732
The Genome Aggregation DatabaseEuropeSub18468T=0.787C=0.212
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.690C=0.309
The Genome Aggregation DatabaseOtherSub302T=0.810C=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.655C=0.344
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.777C=0.223
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
19193628ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.Birley AJHum Mol Genet
19298322Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans.Sherva RAlcohol Clin Exp Res
19252927Bladder cancer SNP panel predicts susceptibility and survival.Andrew ASHum Genet
17273965Evidence of positive selection on a class I ADH locus.Han YAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs22418945.00E-10alcohol dependence24166409
rs22418948.00E-07alcohol dependence24166409

eQTL of rs2241894 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:100266133ADH1CENSG00000248144.1T>C2.6414e-5-8051Caudate_basal_ganglia

meQTL of rs2241894 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 )
chr4100245602100245886E068-21486
chr4100221669100221897E070-45475
chr4100244954100245162E073-22210
chr4100245344100245493E073-21879
chr4100221669100221897E082-45475
chr4100222048100222444E082-44928