rs1126671

Homo sapiens
T>C
ADH4 : Missense Variant
LOC100507053 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0244 (29622/121382,ExAC)
T==0254 (7575/29716,GnomAD)
T==0243 (7088/29118,TOPMED)
C=0269 (3500/13006,GO-ESP)
T==0153 (766/5008,1000G)
T==0305 (1174/3854,ALSPAC)
T==0314 (1165/3708,TWINSUK)
chr4:99127263 (GRCh38.p7) (4q23)
AD
GWASCatalog
15   publication(s)
See rs on genome
7 Enhancers around
37 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99127263T>C
GRCh37.p13 chr 4NC_000004.11:g.100048414T>C

Gene: ADH4, alcohol dehydrogenase 4 (class II), pi polypeptide(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADH4 transcript variant 1NM_001306171.1:c....NM_001306171.1:c.982A>GI [ATT]> V [GTT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform 1NP_001293100.1:p....NP_001293100.1:p.Ile328ValI [Ile]> V [Val]Missense Variant
ADH4 transcript variant 2NM_001306172.1:c....NM_001306172.1:c.982A>GI [ATT]> V [GTT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform 1NP_001293101.1:p....NP_001293101.1:p.Ile328ValI [Ile]> V [Val]Missense Variant
ADH4 transcript variant 3NM_000670.4:c.925A>GI [ATT]> V [GTT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform 2NP_000661.2:p.Ile...NP_000661.2:p.Ile309ValI [Ile]> V [Val]Missense Variant
ADH4 transcript variant X1XM_017007713.1:c....XM_017007713.1:c.982A>GI [ATT]> V [GTT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform X1XP_016863202.1:p....XP_016863202.1:p.Ile328ValI [Ile]> V [Val]Missense Variant
ADH4 transcript variant X2XM_017007714.1:c....XM_017007714.1:c.982A>GI [ATT]> V [GTT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform X1XP_016863203.1:p....XP_016863203.1:p.Ile328ValI [Ile]> V [Val]Missense Variant
ADH4 transcript variant X3XM_017007715.1:c....XM_017007715.1:c.925A>GI [ATT]> V [GTT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform X2XP_016863204.1:p....XP_016863204.1:p.Ile309ValI [Ile]> V [Val]Missense Variant

Gene: LOC100507053, uncharacterized LOC100507053(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100507053 transcriptNR_037884.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.139C=0.861
1000GenomesAmericanSub694T=0.230C=0.770
1000GenomesEast AsianSub1008T=0.001C=0.999
1000GenomesEuropeSub1006T=0.303C=0.697
1000GenomesGlobalStudy-wide5008T=0.153C=0.847
1000GenomesSouth AsianSub978T=0.120C=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.305C=0.695
The Exome Aggregation ConsortiumAmericanSub21978T=0.182C=0.817
The Exome Aggregation ConsortiumAsianSub25166T=0.097C=0.902
The Exome Aggregation ConsortiumEuropeSub73330T=0.312C=0.687
The Exome Aggregation ConsortiumGlobalStudy-wide121382T=0.244C=0.755
The Exome Aggregation ConsortiumOtherSub908T=0.280C=0.720
The Genome Aggregation DatabaseAfricanSub8692T=0.174C=0.826
The Genome Aggregation DatabaseAmericanSub824T=0.250C=0.750
The Genome Aggregation DatabaseEast AsianSub1622T=0.002C=0.998
The Genome Aggregation DatabaseEuropeSub18276T=0.314C=0.685
The Genome Aggregation DatabaseGlobalStudy-wide29716T=0.254C=0.745
The Genome Aggregation DatabaseOtherSub302T=0.310C=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.243C=0.756
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.314C=0.686
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
17069770Personality traits of agreeableness and extraversion are associated with ADH4 variation.Luo XBiol Psychiatry
16685648Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.Luo XAm J Hum Genet
21635275Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample.Gizer IRAlcohol Clin Exp Res
17185388Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.Luo XHum Mol Genet
16220108ADH4 gene variation is associated with alcohol and drug dependence: results from family controlled and population-structured association studies.Luo XPharmacogenet Genomics
19925625Cluster headache is associated with the alcohol dehydrogenase 4 (ADH4) gene.Rainero IHeadache
17273965Evidence of positive selection on a class I ADH locus.Han YAm J Hum Genet
26849558Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study.Vu KNPLoS One
19193628ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.Birley AJHum Mol Genet
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
27041676Screening of Two ADH4 Variations in a Swedish Cluster Headache Case-Control Material.Fourier CHeadache
20215924A genome-wide association study of amygdala activation in youths with and without bipolar disorder.Liu XJ Am Acad Child Adolesc Psychiatry

P-Value

SNP ID p-value Traits Study
rs11266715E-06alcohol dependence24166409

eQTL of rs1126671 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 rs1126671 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 )
chr4100006643100006704E070-41710
chr4100006873100006947E070-41467
chr4100012091100012363E071-36051
chr4100006873100006947E081-41467
chr4100007948100008019E081-40395
chr4100006643100006704E082-41710
chr4100006873100006947E082-41467




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4100008829100008950E067-39464
chr4100009042100010625E067-37789
chr4100010636100011572E067-36842
chr4100008829100008950E068-39464
chr4100009042100010625E068-37789
chr4100010636100011572E068-36842
chr4100008645100008721E069-39693
chr4100008829100008950E069-39464
chr4100009042100010625E069-37789
chr4100010636100011572E069-36842
chr4100008158100008256E070-40158
chr4100008370100008613E070-39801
chr4100008645100008721E070-39693
chr4100008829100008950E070-39464
chr4100009042100010625E070-37789
chr4100010636100011572E070-36842
chr4100009042100010625E071-37789
chr4100010636100011572E071-36842
chr4100008829100008950E072-39464
chr4100009042100010625E072-37789
chr4100010636100011572E072-36842
chr4100008829100008950E073-39464
chr4100009042100010625E073-37789
chr4100010636100011572E073-36842
chr4100009042100010625E074-37789
chr4100010636100011572E074-36842
chr4100008645100008721E081-39693
chr4100008829100008950E081-39464
chr4100009042100010625E081-37789
chr4100010636100011572E081-36842
chr4100007472100007769E082-40645
chr4100008158100008256E082-40158
chr4100008370100008613E082-39801
chr4100008645100008721E082-39693
chr4100008829100008950E082-39464
chr4100009042100010625E082-37789
chr4100010636100011572E082-36842