SNP Detail Info-rs985765

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0414 (12374/29890,GnomAD)
G==0477 (13899/29118,TOPMED)
A=0489 (2451/5008,1000G)
G==0311 (1200/3854,ALSPAC)
G==0324 (1202/3708,TWINSUK)

Position: chr5:13394059 (GRCh38.p7) (5p15.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.13394059G>A
GRCh37.p13 chr 5	NC_000005.9:g.13394171G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.659	A=0.341
1000Genomes	American	Sub	694	G=0.460	A=0.540
1000Genomes	East Asian	Sub	1008	G=0.546	A=0.454
1000Genomes	Europe	Sub	1006	G=0.336	A=0.664
1000Genomes	Global	Study-wide	5008	G=0.511	A=0.489
1000Genomes	South Asian	Sub	978	G=0.490	A=0.510
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.311	A=0.689
The Genome Aggregation Database	African	Sub	8692	G=0.627	A=0.373
The Genome Aggregation Database	American	Sub	836	G=0.460	A=0.540
The Genome Aggregation Database	East Asian	Sub	1604	G=0.493	A=0.507
The Genome Aggregation Database	Europe	Sub	18456	G=0.307	A=0.692
The Genome Aggregation Database	Global	Study-wide	29890	G=0.414	A=0.586
The Genome Aggregation Database	Other	Sub	302	G=0.240	A=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.477	A=0.522
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.324	A=0.676

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
rs985765	0.0000996	alcoholism	pha002893
rs985765	0.0001	alcohol dependence	20201924
rs985765	0.00023	alcohol dependence(early age of onset)	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr5	13358554	13358672	E082	-35499
chr5	13359452	13359758	E082	-34413

rs985765