SNP Detail Info-rs2842040

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0415 (12360/29778,GnomAD)
G==0423 (12326/29118,TOPMED)
G==0477 (2387/5008,1000G)
G==0395 (1521/3854,ALSPAC)
G==0412 (1527/3708,TWINSUK)

Position: chr1:69050956 (GRCh38.p7) (1p31.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.69050956G>A
GRCh37.p13 chr 1	NC_000001.10:g.69516639G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.468	A=0.532
1000Genomes	American	Sub	694	G=0.330	A=0.670
1000Genomes	East Asian	Sub	1008	G=0.609	A=0.391
1000Genomes	Europe	Sub	1006	G=0.404	A=0.596
1000Genomes	Global	Study-wide	5008	G=0.477	A=0.523
1000Genomes	South Asian	Sub	978	G=0.530	A=0.470
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.395	A=0.605
The Genome Aggregation Database	African	Sub	8666	G=0.473	A=0.527
The Genome Aggregation Database	American	Sub	830	G=0.330	A=0.670
The Genome Aggregation Database	East Asian	Sub	1602	G=0.625	A=0.375
The Genome Aggregation Database	Europe	Sub	18378	G=0.375	A=0.624
The Genome Aggregation Database	Global	Study-wide	29778	G=0.415	A=0.584
The Genome Aggregation Database	Other	Sub	302	G=0.300	A=0.700
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.423	A=0.576
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.412	A=0.588

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
rs2842040	0.000979	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 )
chr1	69547437	69547674	E070	30798
chr1	69548064	69548432	E070	31425

rs2842040