rs12133004

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0114 (3419/29960,GnomAD)
C=0082 (2407/29118,TOPMED)
C=0090 (450/5008,1000G)
C=0093 (358/3854,ALSPAC)
C=0104 (385/3708,TWINSUK)
chr1:90709862 (GRCh38.p7) (1p22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.90709862T>C
GRCh37.p13 chr 1NC_000001.10:g.91175419T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.937C=0.063
1000GenomesAmericanSub694T=0.840C=0.160
1000GenomesEast AsianSub1008T=0.946C=0.054
1000GenomesEuropeSub1006T=0.891C=0.109
1000GenomesGlobalStudy-wide5008T=0.910C=0.090
1000GenomesSouth AsianSub978T=0.910C=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.907C=0.093
The Genome Aggregation DatabaseAfricanSub8728T=0.933C=0.067
The Genome Aggregation DatabaseAmericanSub838T=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1620T=0.958C=0.042
The Genome Aggregation DatabaseEuropeSub18472T=0.859C=0.140
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.885C=0.114
The Genome Aggregation DatabaseOtherSub302T=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.917C=0.082
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.896C=0.104
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs121330040.000027alcohol dependence20201924
rs121330040.0000275alcoholismpha002893
rs121330040.00088alcohol dependence(early age of onset)20201924

eQTL of rs12133004 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 rs12133004 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 )
chr19119385091193940E06818431

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19117203391173502E068-1917
chr19118302091183215E0707601
chr19118323191183269E0707812
chr19118329291183954E0707873
chr19118302091183215E0717601
chr19118323191183269E0717812
chr19118329291183954E0717873
chr19118302091183215E0747601
chr19118323191183269E0747812
chr19118329291183954E0747873
chr19119611991196583E07420700
chr19118302091183215E0827601
chr19118323191183269E0827812
chr19118329291183954E0827873