SNP Detail Info-rs7141911

Organism: Homo sapiens

Alleles: A>G / A>T

Gene : Feature

EXOC5 : 3 Prime UTR Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0301 (9005/29890,GnomAD)
G=0399 (11640/29116,TOPMED)
G=0310 (1553/5008,1000G)
G=0138 (530/3854,ALSPAC)
G=0151 (561/3708,TWINSUK)

Position: chr14:57206153 (GRCh38.p7) (14q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

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	3 Prime UTR Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.156	G=0.844
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=0.881	G=0.119
1000Genomes	Global	Study-wide	5008	A=0.690	G=0.310
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=0.862	G=0.138
The Genome Aggregation Database	African	Sub	8706	A=0.280	G=0.720
The Genome Aggregation Database	American	Sub	838	A=0.890	G=0.110
The Genome Aggregation Database	East Asian	Sub	1614	A=0.857	G=0.143
The Genome Aggregation Database	Europe	Sub	18430	A=0.871	G=0.128
The Genome Aggregation Database	Global	Study-wide	29890	A=0.698	G=0.301
The Genome Aggregation Database	Other	Sub	302	A=0.850	G=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.600	G=0.399
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.849	G=0.151

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
rs7141911	6.08E-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

rs7141911