SNP Detail Info-rs11722181

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0115 (3447/29928,GnomAD)
A==0149 (4348/29118,TOPMED)
A==0164 (820/5008,1000G)
A==0092 (356/3854,ALSPAC)
A==0094 (347/3708,TWINSUK)

Position: chr4:33353324 (GRCh38.p7) (4p15.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.33353324A>C
GRCh37.p13 chr 4	NC_000004.11:g.33354946A>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.228	C=0.772
1000Genomes	American	Sub	694	A=0.200	C=0.800
1000Genomes	East Asian	Sub	1008	A=0.072	C=0.928
1000Genomes	Europe	Sub	1006	A=0.093	C=0.907
1000Genomes	Global	Study-wide	5008	A=0.164	C=0.836
1000Genomes	South Asian	Sub	978	A=0.220	C=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.092	C=0.908
The Genome Aggregation Database	African	Sub	8718	A=0.196	C=0.804
The Genome Aggregation Database	American	Sub	834	A=0.210	C=0.790
The Genome Aggregation Database	East Asian	Sub	1618	A=0.098	C=0.902
The Genome Aggregation Database	Europe	Sub	18458	A=0.074	C=0.925
The Genome Aggregation Database	Global	Study-wide	29928	A=0.115	C=0.884
The Genome Aggregation Database	Other	Sub	300	A=0.080	C=0.920
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.149	C=0.850
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.094	C=0.906

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
rs11722181	0.000953	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

rs11722181