SNP Detail Info-rs2450153

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0248 (7442/29942,GnomAD)
G=0257 (7493/29118,TOPMED)
G=0297 (1487/5008,1000G)
G=0220 (846/3854,ALSPAC)
G=0233 (865/3708,TWINSUK)

Position: chr8:52059112 (GRCh38.p7) (8q11.23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 11 Enhancers around

Promoter: 7 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.52059112A>G
GRCh37.p13 chr 8	NC_000008.10:g.52971672A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.741	G=0.259
1000Genomes	American	Sub	694	A=0.740	G=0.260
1000Genomes	East Asian	Sub	1008	A=0.517	G=0.483
1000Genomes	Europe	Sub	1006	A=0.782	G=0.218
1000Genomes	Global	Study-wide	5008	A=0.703	G=0.297
1000Genomes	South Asian	Sub	978	A=0.740	G=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.780	G=0.220
The Genome Aggregation Database	African	Sub	8718	A=0.739	G=0.261
The Genome Aggregation Database	American	Sub	834	A=0.700	G=0.300
The Genome Aggregation Database	East Asian	Sub	1610	A=0.556	G=0.444
The Genome Aggregation Database	Europe	Sub	18478	A=0.775	G=0.224
The Genome Aggregation Database	Global	Study-wide	29942	A=0.751	G=0.248
The Genome Aggregation Database	Other	Sub	302	A=0.820	G=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.742	G=0.257
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.767	G=0.233

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
rs2450153	0.000582	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 )
chr8	52969927	52969992	E070	-1680
chr8	52987215	52987333	E070	15543
chr8	52987398	52987452	E070	15726
chr8	53019609	53019663	E070	47937
chr8	53019609	53019663	E072	47937
chr8	53019609	53019663	E074	47937
chr8	53020298	53020380	E074	48626
chr8	53020597	53020669	E074	48925
chr8	52987051	52987126	E081	15379
chr8	52987215	52987333	E081	15543
chr8	52987398	52987452	E081	15726

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr8	53013447	53013991	E068	41775
chr8	53013447	53013991	E069	41775
chr8	53013447	53013991	E070	41775
chr8	53013447	53013991	E071	41775
chr8	53013447	53013991	E072	41775
chr8	53013447	53013991	E074	41775
chr8	53013447	53013991	E082	41775

rs2450153