SNP Detail Info-rs811029

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0358 (10748/29952,GnomAD)
G=0311 (9068/29118,TOPMED)
G=0378 (1892/5008,1000G)
G=0384 (1479/3854,ALSPAC)
G=0394 (1461/3708,TWINSUK)

Position: chr19:27912644 (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.27912644A>G
GRCh37.p13 chr 19	NC_000019.9:g.28403552A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.786	G=0.214
1000Genomes	American	Sub	694	A=0.580	G=0.420
1000Genomes	East Asian	Sub	1008	A=0.455	G=0.545
1000Genomes	Europe	Sub	1006	A=0.618	G=0.382
1000Genomes	Global	Study-wide	5008	A=0.622	G=0.378
1000Genomes	South Asian	Sub	978	A=0.610	G=0.390
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.616	G=0.384
The Genome Aggregation Database	African	Sub	8720	A=0.760	G=0.240
The Genome Aggregation Database	American	Sub	836	A=0.540	G=0.460
The Genome Aggregation Database	East Asian	Sub	1620	A=0.425	G=0.575
The Genome Aggregation Database	Europe	Sub	18474	A=0.609	G=0.391
The Genome Aggregation Database	Global	Study-wide	29952	A=0.641	G=0.358
The Genome Aggregation Database	Other	Sub	302	A=0.620	G=0.380
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.688	G=0.311
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.606	G=0.394

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
rs811029	0.000225	alcohol consumption (maxi-drinks)	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:28403552	CTC-459F4.6	ENSG00000267264.1	A>G	1.9152e-8	109106	Cerebellum
Chr19:28403552	AC022153.1	ENSG00000267623.2	A>G	2.5001e-3	10049	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	-7569
chr19	28396238	28396327	E067	-7225
chr19	28396600	28397548	E067	-6004
chr19	28395906	28395983	E068	-7569
chr19	28396238	28396327	E068	-7225
chr19	28396600	28397548	E068	-6004
chr19	28396600	28397548	E069	-6004
chr19	28395906	28395983	E071	-7569
chr19	28396238	28396327	E071	-7225
chr19	28396600	28397548	E071	-6004
chr19	28396238	28396327	E072	-7225
chr19	28396600	28397548	E072	-6004
chr19	28396238	28396327	E073	-7225
chr19	28396238	28396327	E074	-7225
chr19	28396600	28397548	E074	-6004
chr19	28446320	28446447	E081	42768
chr19	28446522	28446797	E081	42970

rs811029