rs1789911

Homo sapiens
T>C
ADH1C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0332 (9969/29942,GnomAD)
C=0261 (7619/29118,TOPMED)
C=0214 (1074/5008,1000G)
C=0396 (1528/3854,ALSPAC)
C=0410 (1520/3708,TWINSUK)
chr4:99342621 (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.99342621T>C
GRCh37.p13 chr 4NC_000004.11:g.100263778T>C
ADH1C RefSeqGeneNG_011718.1:g.15140A>G

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
1000GenomesAfricanSub1322T=0.900C=0.100
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.924C=0.076
1000GenomesEuropeSub1006T=0.595C=0.405
1000GenomesGlobalStudy-wide5008T=0.786C=0.214
1000GenomesSouth AsianSub978T=0.720C=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.604C=0.396
The Genome Aggregation DatabaseAfricanSub8714T=0.855C=0.145
The Genome Aggregation DatabaseAmericanSub836T=0.680C=0.320
The Genome Aggregation DatabaseEast AsianSub1622T=0.913C=0.087
The Genome Aggregation DatabaseEuropeSub18468T=0.554C=0.445
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.667C=0.332
The Genome Aggregation DatabaseOtherSub302T=0.750C=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.738C=0.261
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.590C=0.410
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
rs17899115E-06alcohol dependence24166409

eQTL of rs1789911 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 rs1789911 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 )
chr4100245602100245886E068-17892
chr4100221669100221897E070-41881
chr4100244954100245162E073-18616
chr4100245344100245493E073-18285
chr4100221669100221897E082-41881
chr4100222048100222444E082-41334