SNP Detail Info-rs6469576

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0230 (6895/29864,GnomAD)
A=0327 (9536/29118,TOPMED)
A=0275 (1376/5008,1000G)
A=0068 (262/3854,ALSPAC)
A=0073 (270/3708,TWINSUK)

Position: chr8:115307833 (GRCh38.p7) (8q23.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.115307833G>A
GRCh37.p13 chr 8	NC_000008.10:g.116320062G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.285	A=0.715
1000Genomes	American	Sub	694	G=0.810	A=0.190
1000Genomes	East Asian	Sub	1008	G=0.947	A=0.053
1000Genomes	Europe	Sub	1006	G=0.930	A=0.070
1000Genomes	Global	Study-wide	5008	G=0.725	A=0.275
1000Genomes	South Asian	Sub	978	G=0.820	A=0.180
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.932	A=0.068
The Genome Aggregation Database	African	Sub	8680	G=0.377	A=0.623
The Genome Aggregation Database	American	Sub	832	G=0.870	A=0.130
The Genome Aggregation Database	East Asian	Sub	1604	G=0.953	A=0.047
The Genome Aggregation Database	Europe	Sub	18448	G=0.930	A=0.069
The Genome Aggregation Database	Global	Study-wide	29864	G=0.769	A=0.230
The Genome Aggregation Database	Other	Sub	300	G=0.920	A=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.672	A=0.327
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.927	A=0.073

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
rs6469576	0.000707	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr8	116309120	116309333	E067	-10729
chr8	116309381	116309465	E067	-10597
chr8	116309120	116309333	E071	-10729
chr8	116309381	116309465	E071	-10597
chr8	116339505	116339555	E074	19443

rs6469576