SNP Detail Info-rs1961293

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0287 (8368/29118,TOPMED)
A=0231 (6525/28226,GnomAD)
A=0227 (1136/5008,1000G)
A=0135 (521/3854,ALSPAC)
A=0150 (557/3708,TWINSUK)

Position: chr14:57198361 (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.57198361G>A
GRCh37.p13 chr 14	NC_000014.8:g.57665079G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.458	A=0.542
1000Genomes	American	Sub	694	G=0.900	A=0.100
1000Genomes	East Asian	Sub	1008	G=0.886	A=0.114
1000Genomes	Europe	Sub	1006	G=0.883	A=0.117
1000Genomes	Global	Study-wide	5008	G=0.773	A=0.227
1000Genomes	South Asian	Sub	978	G=0.880	A=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.865	A=0.135
The Genome Aggregation Database	African	Sub	8420	G=0.535	A=0.465
The Genome Aggregation Database	American	Sub	832	G=0.900	A=0.100
The Genome Aggregation Database	East Asian	Sub	1606	G=0.857	A=0.143
The Genome Aggregation Database	Europe	Sub	17074	G=0.867	A=0.132
The Genome Aggregation Database	Global	Study-wide	28226	G=0.768	A=0.231
The Genome Aggregation Database	Other	Sub	294	G=0.850	A=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.712	A=0.287
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.850	A=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
rs1961293	7.83E-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	-24093
chr14	57641122	57641684	E081	-23395
chr14	57642094	57642148	E081	-22931
chr14	57642285	57642434	E081	-22645

rs1961293