SNP Detail Info-rs13144694

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0417 (12402/29692,GnomAD)
G=0490 (14292/29118,TOPMED)
G=0466 (2332/5008,1000G)
G=0347 (1339/3854,ALSPAC)
G=0352 (1306/3708,TWINSUK)

Position: chr4:134814436 (GRCh38.p7) (4q28.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.134814436A>G
GRCh37.p13 chr 4	NC_000004.11:g.135735591A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.346	G=0.654
1000Genomes	American	Sub	694	A=0.510	G=0.490
1000Genomes	East Asian	Sub	1008	A=0.581	G=0.419
1000Genomes	Europe	Sub	1006	A=0.670	G=0.330
1000Genomes	Global	Study-wide	5008	A=0.534	G=0.466
1000Genomes	South Asian	Sub	978	A=0.610	G=0.390
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.653	G=0.347
The Genome Aggregation Database	African	Sub	8636	A=0.397	G=0.603
The Genome Aggregation Database	American	Sub	824	A=0.500	G=0.500
The Genome Aggregation Database	East Asian	Sub	1588	A=0.591	G=0.409
The Genome Aggregation Database	Europe	Sub	18344	A=0.671	G=0.328
The Genome Aggregation Database	Global	Study-wide	29692	A=0.582	G=0.417
The Genome Aggregation Database	Other	Sub	300	A=0.650	G=0.350
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.509	G=0.490
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.648	G=0.352

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
rs13144694	0.000309	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

rs13144694