SNP Detail Info-rs12719740

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0208 (6229/29936,GnomAD)
A=0221 (6452/29118,TOPMED)
A=0213 (1069/5008,1000G)
A=0195 (752/3854,ALSPAC)
A=0183 (677/3708,TWINSUK)

Position: chr15:98529676 (GRCh38.p7) (15q26.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 8 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 15	NC_000015.10:g.98529676G>A
GRCh37.p13 chr 15	NC_000015.9:g.99072905G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.737	A=0.263
1000Genomes	American	Sub	694	G=0.760	A=0.240
1000Genomes	East Asian	Sub	1008	G=0.835	A=0.165
1000Genomes	Europe	Sub	1006	G=0.804	A=0.196
1000Genomes	Global	Study-wide	5008	G=0.787	A=0.213
1000Genomes	South Asian	Sub	978	G=0.800	A=0.200
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.805	A=0.195
The Genome Aggregation Database	African	Sub	8704	G=0.744	A=0.256
The Genome Aggregation Database	American	Sub	838	G=0.760	A=0.240
The Genome Aggregation Database	East Asian	Sub	1616	G=0.796	A=0.204
The Genome Aggregation Database	Europe	Sub	18476	G=0.814	A=0.185
The Genome Aggregation Database	Global	Study-wide	29936	G=0.791	A=0.208
The Genome Aggregation Database	Other	Sub	302	G=0.860	A=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.778	A=0.221
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.817	A=0.183

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
rs12719740	0.000344	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr15	99062161	99062832	E067	-10073
chr15	99062161	99062832	E068	-10073
chr15	99075460	99075556	E068	2555
chr15	99049830	99050111	E069	-22794
chr15	99092591	99092732	E081	19686

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr15	99090102	99092453	E067	17197
chr15	99090102	99092453	E068	17197
chr15	99090102	99092453	E069	17197
chr15	99090102	99092453	E071	17197
chr15	99090102	99092453	E072	17197
chr15	99090102	99092453	E073	17197
chr15	99090102	99092453	E074	17197
chr15	99090102	99092453	E082	17197

rs12719740