SNP Detail Info-rs4769172

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0194 (5834/29930,GnomAD)
G=0150 (4378/29118,TOPMED)
G=0254 (1270/5008,1000G)
G=0198 (763/3854,ALSPAC)
G=0193 (717/3708,TWINSUK)

Position: chr13:21828788 (GRCh38.p7) (13q12.11)

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 13	NC_000013.11:g.21828788T>G
GRCh37.p13 chr 13	NC_000013.10:g.22402927T>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.949	G=0.051
1000Genomes	American	Sub	694	T=0.810	G=0.190
1000Genomes	East Asian	Sub	1008	T=0.569	G=0.431
1000Genomes	Europe	Sub	1006	T=0.778	G=0.222
1000Genomes	Global	Study-wide	5008	T=0.746	G=0.254
1000Genomes	South Asian	Sub	978	T=0.580	G=0.420
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.802	G=0.198
The Genome Aggregation Database	African	Sub	8718	T=0.914	G=0.086
The Genome Aggregation Database	American	Sub	836	T=0.760	G=0.240
The Genome Aggregation Database	East Asian	Sub	1612	T=0.549	G=0.451
The Genome Aggregation Database	Europe	Sub	18462	T=0.777	G=0.222
The Genome Aggregation Database	Global	Study-wide	29930	T=0.805	G=0.194
The Genome Aggregation Database	Other	Sub	302	T=0.820	G=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.849	G=0.150
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.807	G=0.193

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
rs4769172	0.000988	alcohol consumption (maxi-drinks)	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

rs4769172