SNP Detail Info-rs17642621

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105379403 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0072 (2177/29906,GnomAD)
A=0064 (1880/29118,TOPMED)
A=0108 (542/5008,1000G)
A=0055 (212/3854,ALSPAC)
A=0047 (176/3708,TWINSUK)

Position: chr4:118487196 (GRCh38.p7) (4q26)

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.118487196G>A
GRCh37.p13 chr 4	NC_000004.11:g.119408351G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105379403 transcript	XR_001741802.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.934	A=0.066
1000Genomes	American	Sub	694	G=0.960	A=0.040
1000Genomes	East Asian	Sub	1008	G=0.717	A=0.283
1000Genomes	Europe	Sub	1006	G=0.918	A=0.082
1000Genomes	Global	Study-wide	5008	G=0.892	A=0.108
1000Genomes	South Asian	Sub	978	G=0.940	A=0.060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.945	A=0.055
The Genome Aggregation Database	African	Sub	8720	G=0.944	A=0.056
The Genome Aggregation Database	American	Sub	834	G=0.950	A=0.050
The Genome Aggregation Database	East Asian	Sub	1612	G=0.715	A=0.285
The Genome Aggregation Database	Europe	Sub	18438	G=0.938	A=0.062
The Genome Aggregation Database	Global	Study-wide	29906	G=0.927	A=0.072
The Genome Aggregation Database	Other	Sub	302	G=0.870	A=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.935	A=0.064
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.953	A=0.047

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
rs17642621	0.000436	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

rs17642621