rs2090836

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0305 (9128/29912,GnomAD)
T=0324 (9433/29118,TOPMED)
T=0399 (1996/5008,1000G)
T=0250 (963/3854,ALSPAC)
T=0248 (918/3708,TWINSUK)
chr12:78487730 (GRCh38.p7) (12q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.78487730C>T
GRCh37.p13 chr 12NC_000012.11:g.78881510C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.594T=0.406
1000GenomesAmericanSub694C=0.580T=0.420
1000GenomesEast AsianSub1008C=0.465T=0.535
1000GenomesEuropeSub1006C=0.737T=0.263
1000GenomesGlobalStudy-wide5008C=0.601T=0.399
1000GenomesSouth AsianSub978C=0.630T=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.750T=0.250
The Genome Aggregation DatabaseAfricanSub8704C=0.632T=0.368
The Genome Aggregation DatabaseAmericanSub838C=0.620T=0.380
The Genome Aggregation DatabaseEast AsianSub1612C=0.434T=0.566
The Genome Aggregation DatabaseEuropeSub18458C=0.748T=0.251
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.694T=0.305
The Genome Aggregation DatabaseOtherSub300C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.676T=0.324
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.752T=0.248
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
rs20908360.000974alcohol dependence20201924

eQTL of rs2090836 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 rs2090836 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 )
chr127892369878923909E07042188
chr127892397378924552E07042463
chr127892470478924986E07043194
chr127892511378925163E07043603
chr127892552578925679E07044015
chr127892582278925872E07044312
chr127892595378926003E07044443
chr127892611178926258E07044601
chr127892369878923909E08242188
chr127892397378924552E08242463