SNP Detail Info-rs2705988

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0396 (11856/29882,GnomAD)
A=0392 (11430/29118,TOPMED)
A=0334 (1672/5008,1000G)
A=0375 (1446/3854,ALSPAC)
A=0377 (1397/3708,TWINSUK)

Position: chr4:178369239 (GRCh38.p7) (4q34.3)

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 4	NC_000004.12:g.178369239G>A
GRCh37.p13 chr 4	NC_000004.11:g.179290393G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.515	A=0.485
1000Genomes	American	Sub	694	G=0.740	A=0.260
1000Genomes	East Asian	Sub	1008	G=0.787	A=0.213
1000Genomes	Europe	Sub	1006	G=0.610	A=0.390
1000Genomes	Global	Study-wide	5008	G=0.666	A=0.334
1000Genomes	South Asian	Sub	978	G=0.750	A=0.250
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.625	A=0.375
The Genome Aggregation Database	African	Sub	8706	G=0.540	A=0.460
The Genome Aggregation Database	American	Sub	832	G=0.770	A=0.230
The Genome Aggregation Database	East Asian	Sub	1608	G=0.752	A=0.248
The Genome Aggregation Database	Europe	Sub	18434	G=0.612	A=0.388
The Genome Aggregation Database	Global	Study-wide	29882	G=0.603	A=0.396
The Genome Aggregation Database	Other	Sub	302	G=0.630	A=0.370
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.607	A=0.392
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.623	A=0.377

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
rs2705988	0.000701	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

rs2705988