rs1126670

Homo sapiens
C>A
ADH4 : Synonymous Variant
LOC100507053 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0243 (29562/121380,ExAC)
C==0255 (7658/29942,GnomAD)
C==0243 (7081/29118,TOPMED)
A=0268 (3495/13006,GO-ESP)
C==0153 (765/5008,1000G)
C==0303 (1168/3854,ALSPAC)
C==0313 (1161/3708,TWINSUK)
chr4:99131582 (GRCh38.p7) (4q23)
AD
GWASCatalog
8   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.99131582C>A
GRCh37.p13 chr 4NC_000004.11:g.100052733C>A

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.822G>TP [CCG]> P [CCT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform 1NP_001293100.1:p....NP_001293100.1:p.Pro274=P [Pro]> P [Pro]Synonymous Variant
ADH4 transcript variant 2NM_001306172.1:c....NM_001306172.1:c.822G>TP [CCG]> P [CCT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform 1NP_001293101.1:p....NP_001293101.1:p.Pro274=P [Pro]> P [Pro]Synonymous Variant
ADH4 transcript variant 3NM_000670.4:c.765G>TP [CCG]> P [CCT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform 2NP_000661.2:p.Pro...NP_000661.2:p.Pro255=P [Pro]> P [Pro]Synonymous Variant
ADH4 transcript variant X1XM_017007713.1:c....XM_017007713.1:c.822G>TP [CCG]> P [CCT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform X1XP_016863202.1:p....XP_016863202.1:p.Pro274=P [Pro]> P [Pro]Synonymous Variant
ADH4 transcript variant X2XM_017007714.1:c....XM_017007714.1:c.822G>TP [CCG]> P [CCT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform X1XP_016863203.1:p....XP_016863203.1:p.Pro274=P [Pro]> P [Pro]Synonymous Variant
ADH4 transcript variant X3XM_017007715.1:c....XM_017007715.1:c.765G>TP [CCG]> P [CCT]Coding Sequence Variant
alcohol dehydrogenase 4 isoform X2XP_016863204.1:p....XP_016863204.1:p.Pro255=P [Pro]> P [Pro]Synonymous 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
1000GenomesAfricanSub1322C=0.139A=0.861
1000GenomesAmericanSub694C=0.230A=0.770
1000GenomesEast AsianSub1008C=0.001A=0.999
1000GenomesEuropeSub1006C=0.302A=0.698
1000GenomesGlobalStudy-wide5008C=0.153A=0.847
1000GenomesSouth AsianSub978C=0.120A=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.303A=0.697
The Exome Aggregation ConsortiumAmericanSub21976C=0.182A=0.817
The Exome Aggregation ConsortiumAsianSub25166C=0.096A=0.903
The Exome Aggregation ConsortiumEuropeSub73330C=0.311A=0.688
The Exome Aggregation ConsortiumGlobalStudy-wide121380C=0.243A=0.756
The Exome Aggregation ConsortiumOtherSub908C=0.280A=0.720
The Genome Aggregation DatabaseAfricanSub8716C=0.175A=0.825
The Genome Aggregation DatabaseAmericanSub836C=0.250A=0.750
The Genome Aggregation DatabaseEast AsianSub1616C=0.002A=0.998
The Genome Aggregation DatabaseEuropeSub18472C=0.315A=0.684
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.255A=0.744
The Genome Aggregation DatabaseOtherSub302C=0.310A=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.243A=0.756
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.313A=0.687
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
20231535Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.Smith NLCirculation
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
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
16685648Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.Luo XAm J Hum Genet
19193628ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.Birley AJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs11266703E-06alcohol dependence24166409

eQTL of rs1126670 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 rs1126670 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 )
chr4100006643100006704E070-46029
chr4100006873100006947E070-45786
chr4100012091100012363E071-40370
chr4100006873100006947E081-45786
chr4100007948100008019E081-44714
chr4100006643100006704E082-46029
chr4100006873100006947E082-45786




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4100008829100008950E067-43783
chr4100009042100010625E067-42108
chr4100010636100011572E067-41161
chr4100008829100008950E068-43783
chr4100009042100010625E068-42108
chr4100010636100011572E068-41161
chr4100008645100008721E069-44012
chr4100008829100008950E069-43783
chr4100009042100010625E069-42108
chr4100010636100011572E069-41161
chr4100008158100008256E070-44477
chr4100008370100008613E070-44120
chr4100008645100008721E070-44012
chr4100008829100008950E070-43783
chr4100009042100010625E070-42108
chr4100010636100011572E070-41161
chr4100009042100010625E071-42108
chr4100010636100011572E071-41161
chr4100008829100008950E072-43783
chr4100009042100010625E072-42108
chr4100010636100011572E072-41161
chr4100008829100008950E073-43783
chr4100009042100010625E073-42108
chr4100010636100011572E073-41161
chr4100009042100010625E074-42108
chr4100010636100011572E074-41161
chr4100008645100008721E081-44012
chr4100008829100008950E081-43783
chr4100009042100010625E081-42108
chr4100010636100011572E081-41161
chr4100007472100007769E082-44964
chr4100008158100008256E082-44477
chr4100008370100008613E082-44120
chr4100008645100008721E082-44012
chr4100008829100008950E082-43783
chr4100009042100010625E082-42108
chr4100010636100011572E082-41161