SNP Detail Info-rs2540097

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0258 (7732/29934,GnomAD)
G=0256 (7454/29116,TOPMED)
G=0325 (1627/5008,1000G)
G=0297 (1144/3854,ALSPAC)
G=0302 (1118/3708,TWINSUK)

Position: chr2:59528529 (GRCh38.p7) (2p16.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.59528529A>G
GRCh37.p13 chr 2	NC_000002.11:g.59755664A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.836	G=0.164
1000Genomes	American	Sub	694	A=0.570	G=0.430
1000Genomes	East Asian	Sub	1008	A=0.483	G=0.517
1000Genomes	Europe	Sub	1006	A=0.703	G=0.297
1000Genomes	Global	Study-wide	5008	A=0.675	G=0.325
1000Genomes	South Asian	Sub	978	A=0.700	G=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.703	G=0.297
The Genome Aggregation Database	African	Sub	8718	A=0.829	G=0.171
The Genome Aggregation Database	American	Sub	838	A=0.560	G=0.440
The Genome Aggregation Database	East Asian	Sub	1606	A=0.482	G=0.518
The Genome Aggregation Database	Europe	Sub	18472	A=0.732	G=0.268
The Genome Aggregation Database	Global	Study-wide	29934	A=0.741	G=0.258
The Genome Aggregation Database	Other	Sub	300	A=0.700	G=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.744	G=0.256
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.698	G=0.302

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
rs2540097	6.62E-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	59793570	59793733	E081	37906
chr2	59793775	59794244	E081	38111
chr2	59794294	59794429	E081	38630
chr2	59794482	59795096	E081	38818
chr2	59795318	59795414	E081	39654
chr2	59795566	59795892	E081	39902
chr2	59798318	59798751	E081	42654
chr2	59799462	59799668	E081	43798
chr2	59793570	59793733	E082	37906
chr2	59793775	59794244	E082	38111
chr2	59794294	59794429	E082	38630
chr2	59794482	59795096	E082	38818
chr2	59795318	59795414	E082	39654

rs2540097