SNP Detail Info-rs8131875

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0307 (9208/29904,GnomAD)
G=0345 (10046/29118,TOPMED)
G=0325 (1627/5008,1000G)
G=0239 (920/3854,ALSPAC)
G=0250 (926/3708,TWINSUK)

Position: chr21:14315172 (GRCh38.p7) (21q11.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 7 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 21	NC_000021.9:g.14315172A>G
GRCh37.p13 chr 21	NC_000021.8:g.15687493A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.511	G=0.489
1000Genomes	American	Sub	694	A=0.760	G=0.240
1000Genomes	East Asian	Sub	1008	A=0.722	G=0.278
1000Genomes	Europe	Sub	1006	A=0.730	G=0.270
1000Genomes	Global	Study-wide	5008	A=0.675	G=0.325
1000Genomes	South Asian	Sub	978	A=0.740	G=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.761	G=0.239
The Genome Aggregation Database	African	Sub	8696	A=0.550	G=0.450
The Genome Aggregation Database	American	Sub	830	A=0.780	G=0.220
The Genome Aggregation Database	East Asian	Sub	1606	A=0.712	G=0.288
The Genome Aggregation Database	Europe	Sub	18470	A=0.753	G=0.246
The Genome Aggregation Database	Global	Study-wide	29904	A=0.692	G=0.307
The Genome Aggregation Database	Other	Sub	302	A=0.650	G=0.350
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.655	G=0.345
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.750	G=0.250

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
rs8131875	0.000078	alcohol dependence	20201924
rs8131875	0.0000783	alcoholism	pha002892

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

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr21	15645939	15646819	E067	-40674
chr21	15645939	15646819	E068	-40674
chr21	15645939	15646819	E069	-40674
chr21	15645939	15646819	E071	-40674
chr21	15645939	15646819	E072	-40674
chr21	15645939	15646819	E073	-40674
chr21	15645939	15646819	E074	-40674

rs8131875