SNP Detail Info-rs11597478

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0177 (5309/29928,GnomAD)
A=0177 (5159/29118,TOPMED)
A=0139 (696/5008,1000G)
A=0201 (773/3854,ALSPAC)
A=0200 (741/3708,TWINSUK)

Position: chr10:2673226 (GRCh38.p7) (10p15.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 10	NC_000010.11:g.2673226G>A
GRCh37.p13 chr 10	NC_000010.10:g.2715418G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.848	A=0.152
1000Genomes	American	Sub	694	G=0.860	A=0.140
1000Genomes	East Asian	Sub	1008	G=0.957	A=0.043
1000Genomes	Europe	Sub	1006	G=0.799	A=0.201
1000Genomes	Global	Study-wide	5008	G=0.861	A=0.139
1000Genomes	South Asian	Sub	978	G=0.840	A=0.160
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.799	A=0.201
The Genome Aggregation Database	African	Sub	8692	G=0.842	A=0.158
The Genome Aggregation Database	American	Sub	838	G=0.850	A=0.150
The Genome Aggregation Database	East Asian	Sub	1622	G=0.965	A=0.035
The Genome Aggregation Database	Europe	Sub	18474	G=0.801	A=0.198
The Genome Aggregation Database	Global	Study-wide	29928	G=0.822	A=0.177
The Genome Aggregation Database	Other	Sub	302	G=0.700	A=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.822	A=0.177
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.800	A=0.200

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs11597478	0.000125	alcohol dependence	24277619

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 )
chr10	2723910	2724020	E070	8492
chr10	2724153	2724497	E070	8735
chr10	2723485	2723635	E081	8067
chr10	2723697	2723760	E081	8279
chr10	2723910	2724020	E081	8492
chr10	2745736	2745816	E081	30318
chr10	2745934	2746041	E081	30516
chr10	2746094	2746158	E081	30676

rs11597478