rs34761493

Homo sapiens
G>A
ADH1C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0098 (2934/29936,GnomAD)
A=0114 (3338/29118,TOPMED)
A=0145 (725/5008,1000G)
A=0065 (250/3854,ALSPAC)
A=0070 (260/3708,TWINSUK)
chr4:99352013 (GRCh38.p7) (4q23)
AD
GWASCatalog
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99352013G>A
GRCh37.p13 chr 4NC_000004.11:g.100273170G>A
ADH1C RefSeqGeneNG_011718.1:g.5748C>T

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
1000GenomesAfricanSub1322G=0.852A=0.148
1000GenomesAmericanSub694G=0.630A=0.370
1000GenomesEast AsianSub1008G=0.841A=0.159
1000GenomesEuropeSub1006G=0.920A=0.080
1000GenomesGlobalStudy-wide5008G=0.855A=0.145
1000GenomesSouth AsianSub978G=0.960A=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.935A=0.065
The Genome Aggregation DatabaseAfricanSub8714G=0.872A=0.128
The Genome Aggregation DatabaseAmericanSub834G=0.680A=0.320
The Genome Aggregation DatabaseEast AsianSub1614G=0.822A=0.178
The Genome Aggregation DatabaseEuropeSub18472G=0.935A=0.064
The Genome Aggregation DatabaseGlobalStudy-wide29936G=0.902A=0.098
The Genome Aggregation DatabaseOtherSub302G=0.780A=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.885A=0.114
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.930A=0.070
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
rs347614932E-06alcohol dependence24166409

eQTL of rs34761493 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 rs34761493 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 )
chr4100245602100245886E068-27284
chr4100244954100245162E073-28008
chr4100245344100245493E073-27677