SNP Detail Info-rs1999186

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0121 (3635/29968,GnomAD)
G==0148 (4318/29118,TOPMED)
G==0162 (812/5008,1000G)
G==0059 (227/3854,ALSPAC)
G==0058 (215/3708,TWINSUK)

Position: chr1:85619862 (GRCh38.p7) (1p22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 24 Enhancers around

Promoter: 14 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.85619862G>A
GRCh37.p13 chr 1	NC_000001.10:g.86085545G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.330	A=0.670
1000Genomes	American	Sub	694	G=0.090	A=0.910
1000Genomes	East Asian	Sub	1008	G=0.141	A=0.859
1000Genomes	Europe	Sub	1006	G=0.063	A=0.937
1000Genomes	Global	Study-wide	5008	G=0.162	A=0.838
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=0.059	A=0.941
The Genome Aggregation Database	African	Sub	8710	G=0.272	A=0.728
The Genome Aggregation Database	American	Sub	838	G=0.110	A=0.890
The Genome Aggregation Database	East Asian	Sub	1618	G=0.117	A=0.883
The Genome Aggregation Database	Europe	Sub	18500	G=0.053	A=0.947
The Genome Aggregation Database	Global	Study-wide	29968	G=0.121	A=0.878
The Genome Aggregation Database	Other	Sub	302	G=0.020	A=0.980
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.148	A=0.851
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.058	A=0.942

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
rs1999186	0.000651	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	86044971	86045054	E068	-40491
chr1	86083353	86083777	E068	-1768
chr1	86083353	86083777	E069	-1768
chr1	86044971	86045054	E070	-40491
chr1	86044971	86045054	E071	-40491
chr1	86081335	86081582	E071	-3963
chr1	86083353	86083777	E071	-1768
chr1	86081335	86081582	E072	-3963
chr1	86081633	86081869	E072	-3676
chr1	86083353	86083777	E072	-1768
chr1	86083353	86083777	E074	-1768
chr1	86044634	86044881	E081	-40664
chr1	86044971	86045054	E081	-40491
chr1	86049339	86051194	E081	-34351
chr1	86053529	86054052	E081	-31493
chr1	86064882	86065063	E081	-20482
chr1	86065467	86065756	E081	-19789
chr1	86081335	86081582	E081	-3963
chr1	86081633	86081869	E081	-3676
chr1	86081924	86082516	E081	-3029
chr1	86044634	86044881	E082	-40664
chr1	86052029	86052142	E082	-33403
chr1	86053529	86054052	E082	-31493
chr1	86081335	86081582	E082	-3963

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	86041881	86044595	E067	-40950
chr1	86045192	86049306	E067	-36239
chr1	86041881	86044595	E068	-40950
chr1	86045192	86049306	E068	-36239
chr1	86045192	86049306	E069	-36239
chr1	86045192	86049306	E070	-36239
chr1	86041881	86044595	E071	-40950
chr1	86045192	86049306	E071	-36239
chr1	86045192	86049306	E072	-36239
chr1	86041881	86044595	E073	-40950
chr1	86045192	86049306	E073	-36239
chr1	86041881	86044595	E074	-40950
chr1	86045192	86049306	E074	-36239
chr1	86045192	86049306	E082	-36239

rs1999186