rs12639833

Homo sapiens
C>T
ADH1C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0309 (9247/29866,GnomAD)
T=0344 (10034/29118,TOPMED)
T=0472 (2362/5008,1000G)
T=0249 (960/3854,ALSPAC)
T=0223 (826/3708,TWINSUK)
chr4:99346215 (GRCh38.p7) (4q23)
AD
GWASCatalog
1   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.99346215C>T
GRCh37.p13 chr 4NC_000004.11:g.100267372C>T
ADH1C RefSeqGeneNG_011718.1:g.11546G>A

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/AIntron Variant
ADH1C transcript variant 2NR_133005.1:n.N/AIntron Variant
ADH1C transcript variant X1XM_011531588.2:c.N/AIntron Variant
ADH1C transcript variant X2XM_011531589.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.505T=0.495
1000GenomesAmericanSub694C=0.830T=0.170
1000GenomesEast AsianSub1008C=0.236T=0.764
1000GenomesEuropeSub1006C=0.769T=0.231
1000GenomesGlobalStudy-wide5008C=0.528T=0.472
1000GenomesSouth AsianSub978C=0.400T=0.600
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.751T=0.249
The Genome Aggregation DatabaseAfricanSub8688C=0.542T=0.458
The Genome Aggregation DatabaseAmericanSub828C=0.860T=0.140
The Genome Aggregation DatabaseEast AsianSub1614C=0.268T=0.732
The Genome Aggregation DatabaseEuropeSub18434C=0.787T=0.212
The Genome Aggregation DatabaseGlobalStudy-wide29866C=0.690T=0.309
The Genome Aggregation DatabaseOtherSub302C=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.655T=0.344
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.777T=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

P-Value

SNP ID p-value Traits Study
rs126398333.00E-10alcohol dependence(AA)24166409
rs126398337.00E-07alcohol dependence(EA)24166409
rs126398336.00E-06alcohol dependence(ALL)24166409

eQTL of rs12639833 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:100267372ADH1CENSG00000248144.1C>T2.6414e-5-6812Caudate_basal_ganglia

meQTL of rs12639833 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