SNP Detail Info-rs2819130

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0171 (5136/29880,GnomAD)
G==0183 (5345/29118,TOPMED)
G==0135 (674/5008,1000G)
G==0170 (657/3854,ALSPAC)
G==0168 (622/3708,TWINSUK)

Position: chr1:63765870 (GRCh38.p7) (1p31.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 9 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.63765870G>A
GRCh37.p13 chr 1	NC_000001.10:g.64231541G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.203	A=0.797
1000Genomes	American	Sub	694	G=0.150	A=0.850
1000Genomes	East Asian	Sub	1008	G=0.014	A=0.986
1000Genomes	Europe	Sub	1006	G=0.180	A=0.820
1000Genomes	Global	Study-wide	5008	G=0.135	A=0.865
1000Genomes	South Asian	Sub	978	G=0.110	A=0.890
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.170	A=0.830
The Genome Aggregation Database	African	Sub	8696	G=0.209	A=0.791
The Genome Aggregation Database	American	Sub	830	G=0.140	A=0.860
The Genome Aggregation Database	East Asian	Sub	1620	G=0.015	A=0.985
The Genome Aggregation Database	Europe	Sub	18432	G=0.170	A=0.829
The Genome Aggregation Database	Global	Study-wide	29880	G=0.171	A=0.828
The Genome Aggregation Database	Other	Sub	302	G=0.110	A=0.890
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.183	A=0.816
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.168	A=0.832

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
rs2819130	0.000884	alcohol consumption (maxi-drinks)	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	64279495	64279963	E067	47954
chr1	64279969	64280037	E067	48428
chr1	64244921	64245470	E068	13380
chr1	64245530	64245811	E068	13989
chr1	64246347	64246599	E068	14806
chr1	64279495	64279963	E068	47954
chr1	64279969	64280037	E068	48428
chr1	64280445	64280514	E068	48904
chr1	64280551	64280808	E068	49010
chr1	64279495	64279963	E069	47954
chr1	64244921	64245470	E071	13380
chr1	64276307	64276357	E071	44766
chr1	64279495	64279963	E071	47954
chr1	64279969	64280037	E071	48428
chr1	64279495	64279963	E072	47954
chr1	64279495	64279963	E074	47954
chr1	64279969	64280037	E074	48428

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	64239164	64241805	E067	7623
chr1	64239164	64241805	E068	7623
chr1	64239164	64241805	E069	7623
chr1	64239164	64241805	E070	7623
chr1	64239164	64241805	E071	7623
chr1	64239164	64241805	E072	7623
chr1	64239164	64241805	E073	7623
chr1	64239164	64241805	E074	7623
chr1	64239164	64241805	E082	7623

rs2819130