SNP Detail Info-rs2540083

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0251 (7532/29938,GnomAD)
A=0245 (7141/29116,TOPMED)
A=0316 (1584/5008,1000G)
A=0306 (1179/3854,ALSPAC)
A=0315 (1167/3708,TWINSUK)

Position: chr2:59542015 (GRCh38.p7) (2p16.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 25 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.59542015G>A
GRCh37.p13 chr 2	NC_000002.11:g.59769150G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.877	A=0.123
1000Genomes	American	Sub	694	G=0.610	A=0.390
1000Genomes	East Asian	Sub	1008	G=0.477	A=0.523
1000Genomes	Europe	Sub	1006	G=0.688	A=0.312
1000Genomes	Global	Study-wide	5008	G=0.684	A=0.316
1000Genomes	South Asian	Sub	978	G=0.690	A=0.310
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.694	A=0.306
The Genome Aggregation Database	African	Sub	8708	G=0.865	A=0.135
The Genome Aggregation Database	American	Sub	834	G=0.600	A=0.400
The Genome Aggregation Database	East Asian	Sub	1618	G=0.470	A=0.530
The Genome Aggregation Database	Europe	Sub	18476	G=0.726	A=0.273
The Genome Aggregation Database	Global	Study-wide	29938	G=0.748	A=0.251
The Genome Aggregation Database	Other	Sub	302	G=0.660	A=0.340
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.754	A=0.245
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.685	A=0.315

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs2540083	6.68E-05	alcohol consumption	23743675

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 )
chr2	59812236	59812346	E070	43086
chr2	59812673	59813110	E070	43523
chr2	59813306	59813694	E070	44156
chr2	59812673	59813110	E071	43523
chr2	59812673	59813110	E072	43523
chr2	59812673	59813110	E074	43523
chr2	59793570	59793733	E081	24420
chr2	59793775	59794244	E081	24625
chr2	59794294	59794429	E081	25144
chr2	59794482	59795096	E081	25332
chr2	59795318	59795414	E081	26168
chr2	59795566	59795892	E081	26416
chr2	59798318	59798751	E081	29168
chr2	59799462	59799668	E081	30312
chr2	59812673	59813110	E081	43523
chr2	59793570	59793733	E082	24420
chr2	59793775	59794244	E082	24625
chr2	59794294	59794429	E082	25144
chr2	59794482	59795096	E082	25332
chr2	59795318	59795414	E082	26168
chr2	59812236	59812346	E082	43086
chr2	59812673	59813110	E082	43523
chr2	59813306	59813694	E082	44156
chr2	59815403	59815727	E082	46253
chr2	59815733	59815897	E082	46583

rs2540083