rs1789882

Homo sapiens
A>G
ADH1B : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0183 (22293/121362,ExAC)
A==0185 (5548/29960,GnomAD)
A==0200 (5850/29118,TOPMED)
G=0191 (2487/12986,GO-ESP)
A==0170 (853/5008,1000G)
chr4:99313896 (GRCh38.p7) (4q23)
AD
GWASCatalog
2   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.99313896A>G
GRCh37.p13 chr 4NC_000004.11:g.100235053A>G
ADH1B RefSeqGeneNG_011435.1:g.12520T>C

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.753T>CI [ATT]> I [ATC]Coding Sequence Variant
alcohol dehydrogenase 1B isoform 1NP_000659.2:p.Ile...NP_000659.2:p.Ile251=I [Ile]> I [Ile]Synonymous Variant
ADH1B transcript variant 2NM_001286650.1:c....NM_001286650.1:c.633T>CI [ATT]> I [ATC]Coding Sequence Variant
alcohol dehydrogenase 1B isoform 2NP_001273579.1:p....NP_001273579.1:p.Ile211=I [Ile]> I [Ile]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.206G=0.794
1000GenomesAmericanSub694A=0.180G=0.820
1000GenomesEast AsianSub1008A=0.084G=0.916
1000GenomesEuropeSub1006A=0.144G=0.856
1000GenomesGlobalStudy-wide5008A=0.170G=0.830
1000GenomesSouth AsianSub978A=0.230G=0.770
The Exome Aggregation ConsortiumAmericanSub21974A=0.220G=0.779
The Exome Aggregation ConsortiumAsianSub25162A=0.192G=0.807
The Exome Aggregation ConsortiumEuropeSub73318A=0.169G=0.830
The Exome Aggregation ConsortiumGlobalStudy-wide121362A=0.183G=0.816
The Exome Aggregation ConsortiumOtherSub908A=0.220G=0.780
The Genome Aggregation DatabaseAfricanSub8710A=0.232G=0.768
The Genome Aggregation DatabaseAmericanSub836A=0.200G=0.800
The Genome Aggregation DatabaseEast AsianSub1622A=0.088G=0.912
The Genome Aggregation DatabaseEuropeSub18490A=0.171G=0.828
The Genome Aggregation DatabaseGlobalStudy-wide29960A=0.185G=0.814
The Genome Aggregation DatabaseOtherSub302A=0.150G=0.850
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.200G=0.799
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

P-Value

SNP ID p-value Traits Study
rs17898822.00E-09alcohol dependence(AA)24166409
rs17898826.00E-06alcohol dependence(ALL)24166409

eQTL of rs1789882 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 rs1789882 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 )
chr4100245602100245886E06810549
chr4100221669100221897E070-13156
chr4100244954100245162E0739901
chr4100245344100245493E07310291
chr4100221669100221897E082-13156
chr4100222048100222444E082-12609