SNP Detail Info-rs811033

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0345 (10276/29736,GnomAD)
A=0299 (8717/29110,TOPMED)
A=0370 (1852/5008,1000G)
A=0373 (1436/3854,ALSPAC)
A=0382 (1417/3708,TWINSUK)

Position: chr19:27915321 (GRCh38.p7) (19q11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.27915321G>A
GRCh37.p13 chr 19	NC_000019.9:g.28406229G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.808	A=0.192
1000Genomes	American	Sub	694	G=0.580	A=0.420
1000Genomes	East Asian	Sub	1008	G=0.454	A=0.546
1000Genomes	Europe	Sub	1006	G=0.629	A=0.371
1000Genomes	Global	Study-wide	5008	G=0.630	A=0.370
1000Genomes	South Asian	Sub	978	G=0.610	A=0.390
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.627	A=0.373
The Genome Aggregation Database	African	Sub	8608	G=0.778	A=0.222
The Genome Aggregation Database	American	Sub	826	G=0.550	A=0.450
The Genome Aggregation Database	East Asian	Sub	1600	G=0.424	A=0.576
The Genome Aggregation Database	Europe	Sub	18400	G=0.622	A=0.377
The Genome Aggregation Database	Global	Study-wide	29736	G=0.654	A=0.345
The Genome Aggregation Database	Other	Sub	302	G=0.620	A=0.380
Trans-Omics for Precision Medicine	Global	Study-wide	29110	G=0.700	A=0.299
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.618	A=0.382

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
rs811033	0.000186	alcohol consumption (maxi-drinks)	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:28406229	CTC-459F4.6	ENSG00000267264.1	G>A	1.9152e-8	111783	Cerebellum
Chr19:28406229	AC022153.1	ENSG00000267623.2	G>A	2.5001e-3	12726	Cerebellar_Hemisphere

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr19	28395906	28395983	E067	-10246
chr19	28396238	28396327	E067	-9902
chr19	28396600	28397548	E067	-8681
chr19	28395906	28395983	E068	-10246
chr19	28396238	28396327	E068	-9902
chr19	28396600	28397548	E068	-8681
chr19	28396600	28397548	E069	-8681
chr19	28395906	28395983	E071	-10246
chr19	28396238	28396327	E071	-9902
chr19	28396600	28397548	E071	-8681
chr19	28396238	28396327	E072	-9902
chr19	28396600	28397548	E072	-8681
chr19	28396238	28396327	E073	-9902
chr19	28396238	28396327	E074	-9902
chr19	28396600	28397548	E074	-8681
chr19	28446320	28446447	E081	40091
chr19	28446522	28446797	E081	40293

rs811033