SNP Detail Info-rs2078519

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0311 (9318/29928,GnomAD)
G=0415 (12097/29118,TOPMED)
G=0323 (1617/5008,1000G)
G=0135 (521/3854,ALSPAC)
G=0150 (557/3708,TWINSUK)

Position: chr14:57198781 (GRCh38.p7) (14q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.57198781A>G
GRCh37.p13 chr 14	NC_000014.8:g.57665499A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.111	G=0.889
1000Genomes	American	Sub	694	A=0.870	G=0.130
1000Genomes	East Asian	Sub	1008	A=0.886	G=0.114
1000Genomes	Europe	Sub	1006	A=0.882	G=0.118
1000Genomes	Global	Study-wide	5008	A=0.677	G=0.323
1000Genomes	South Asian	Sub	978	A=0.880	G=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.865	G=0.135
The Genome Aggregation Database	African	Sub	8694	A=0.240	G=0.760
The Genome Aggregation Database	American	Sub	838	A=0.890	G=0.110
The Genome Aggregation Database	East Asian	Sub	1620	A=0.856	G=0.144
The Genome Aggregation Database	Europe	Sub	18474	A=0.873	G=0.126
The Genome Aggregation Database	Global	Study-wide	29928	A=0.688	G=0.311
The Genome Aggregation Database	Other	Sub	302	A=0.850	G=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.584	G=0.415
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.850	G=0.150

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
rs2078519	7.9E-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 )
chr14	57640854	57640986	E081	-24513
chr14	57641122	57641684	E081	-23815
chr14	57642094	57642148	E081	-23351
chr14	57642285	57642434	E081	-23065

rs2078519