SNP Detail Info-rs11851015

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

EXOC5 : 3 Prime UTR Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0209 (6274/29946,GnomAD)
G=0210 (1051/5008,1000G)
G=0134 (518/3854,ALSPAC)
G=0149 (554/3708,TWINSUK)

Position: chr14:57202815 (GRCh38.p7) (14q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.57202815A>G
GRCh37.p13 chr 14	NC_000014.8:g.57669533A>G

Molecule type	Change	Amino acid[Codon]	SO Term
EXOC5 transcript	NM_006544.3:c.	N/A	3 Prime UTR Variant
EXOC5 transcript variant X1	XM_005267272.3:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.520	G=0.480
1000Genomes	American	Sub	694	A=0.910	G=0.090
1000Genomes	East Asian	Sub	1008	A=0.886	G=0.114
1000Genomes	Europe	Sub	1006	A=0.884	G=0.116
1000Genomes	Global	Study-wide	5008	A=0.790	G=0.210
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=0.866	G=0.134
The Genome Aggregation Database	African	Sub	8716	A=0.588	G=0.412
The Genome Aggregation Database	American	Sub	836	A=0.910	G=0.090
The Genome Aggregation Database	East Asian	Sub	1614	A=0.857	G=0.143
The Genome Aggregation Database	Europe	Sub	18478	A=0.874	G=0.126
The Genome Aggregation Database	Global	Study-wide	29946	A=0.790	G=0.209
The Genome Aggregation Database	Other	Sub	302	A=0.850	G=0.150
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.851	G=0.149

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
rs11851015	9E-06	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	57717975	57718025	E068	48442
chr14	57717975	57718025	E071	48442
chr14	57640854	57640986	E081	-28547
chr14	57641122	57641684	E081	-27849
chr14	57642094	57642148	E081	-27385
chr14	57642285	57642434	E081	-27099

rs11851015