SNP Detail Info-rs7149330

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

KCNK13 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0294 (8821/29926,GnomAD)
A=0344 (10037/29118,TOPMED)
A=0336 (1685/5008,1000G)
A=0157 (604/3854,ALSPAC)
A=0161 (597/3708,TWINSUK)

Position: chr14:90169862 (GRCh38.p7) (14q32.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 1 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.90169862G>A
GRCh37.p13 chr 14	NC_000014.8:g.90636206G>A

Molecule type	Change	Amino acid[Codon]	SO Term
KCNK13 transcript	NM_022054.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.353	A=0.647
1000Genomes	American	Sub	694	G=0.830	A=0.170
1000Genomes	East Asian	Sub	1008	G=0.776	A=0.224
1000Genomes	Europe	Sub	1006	G=0.832	A=0.168
1000Genomes	Global	Study-wide	5008	G=0.664	A=0.336
1000Genomes	South Asian	Sub	978	G=0.670	A=0.330
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.843	A=0.157
The Genome Aggregation Database	African	Sub	8688	G=0.413	A=0.587
The Genome Aggregation Database	American	Sub	838	G=0.870	A=0.130
The Genome Aggregation Database	East Asian	Sub	1612	G=0.779	A=0.221
The Genome Aggregation Database	Europe	Sub	18486	G=0.825	A=0.174
The Genome Aggregation Database	Global	Study-wide	29926	G=0.705	A=0.294
The Genome Aggregation Database	Other	Sub	302	G=0.890	A=0.110
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.655	A=0.344
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.839	A=0.161

PMID	Title	Author	Journal
22096494	A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study.	Zuo L	PLoS One

SNP ID	p-value	Traits	Study
rs7149330	8.5E-05	alcohol dependence	22096494

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

rs7149330