SNP Detail Info-rs2959236

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0458 (13680/29864,GnomAD)
C=0479 (13959/29116,TOPMED)
C=0481 (2407/5008,1000G)
C=0381 (1467/3854,ALSPAC)
C=0364 (1348/3708,TWINSUK)

Position: chr2:45085828 (GRCh38.p7) (2p21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.45085828T>C
GRCh37.p13 chr 2	NC_000002.11:g.45312967T>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.395	C=0.605
1000Genomes	American	Sub	694	T=0.670	C=0.330
1000Genomes	East Asian	Sub	1008	T=0.469	C=0.531
1000Genomes	Europe	Sub	1006	T=0.609	C=0.391
1000Genomes	Global	Study-wide	5008	T=0.519	C=0.481
1000Genomes	South Asian	Sub	978	T=0.540	C=0.460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.619	C=0.381
The Genome Aggregation Database	African	Sub	8686	T=0.421	C=0.579
The Genome Aggregation Database	American	Sub	836	T=0.680	C=0.320
The Genome Aggregation Database	East Asian	Sub	1612	T=0.488	C=0.512
The Genome Aggregation Database	Europe	Sub	18428	T=0.595	C=0.404
The Genome Aggregation Database	Global	Study-wide	29864	T=0.541	C=0.458
The Genome Aggregation Database	Other	Sub	302	T=0.650	C=0.350
Trans-Omics for Precision Medicine	Global	Study-wide	29116	T=0.520	C=0.479
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.636	C=0.364

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs2959236	0.000547	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

rs2959236