SNP Detail Info-rs6690512

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0068 (2039/29980,GnomAD)
A=0097 (2834/29118,TOPMED)
A=0093 (465/5008,1000G)
A=0014 (53/3854,ALSPAC)
A=0009 (32/3708,TWINSUK)

Position: chr1:191371813 (GRCh38.p7) (1q31.2)

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 1	NC_000001.11:g.191371813G>A
GRCh37.p13 chr 1	NC_000001.10:g.191340943G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.772	A=0.228
1000Genomes	American	Sub	694	G=0.960	A=0.040
1000Genomes	East Asian	Sub	1008	G=0.944	A=0.056
1000Genomes	Europe	Sub	1006	G=0.991	A=0.009
1000Genomes	Global	Study-wide	5008	G=0.907	A=0.093
1000Genomes	South Asian	Sub	978	G=0.930	A=0.070
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.986	A=0.014
The Genome Aggregation Database	African	Sub	8720	G=0.804	A=0.196
The Genome Aggregation Database	American	Sub	838	G=0.970	A=0.030
The Genome Aggregation Database	East Asian	Sub	1616	G=0.923	A=0.077
The Genome Aggregation Database	Europe	Sub	18504	G=0.990	A=0.009
The Genome Aggregation Database	Global	Study-wide	29980	G=0.932	A=0.068
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.902	A=0.097
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.991	A=0.009

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
rs6690512	0.000768	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

rs6690512