SNP Detail Info-rs198967

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

KLK4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0022 (670/29820,GnomAD)
A=0036 (1062/29118,TOPMED)
A=0024 (118/5008,1000G)
A=0000 (1/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)

Position: chr19:50909765 (GRCh38.p7) (19q13.41)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
KLK4 transcript variant 2	NM_001302961.1:c.	N/A	Intron Variant
KLK4 transcript variant 1	NM_004917.4:c.	N/A	Intron Variant
KLK4 transcript variant 3	NR_126566.1:n.	N/A	Intron Variant
KLK4 transcript variant X1	XM_011527545.2:c.	N/A	Intron Variant
KLK4 transcript variant X3	XM_011527546.2:c.	N/A	Intron Variant
KLK4 transcript variant X2	XM_005259441.4:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.915	A=0.085
1000Genomes	American	Sub	694	G=1.000	A=0.000
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.998	A=0.002
1000Genomes	Global	Study-wide	5008	G=0.976	A=0.024
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=1.000	A=0.000
The Genome Aggregation Database	African	Sub	8670	G=0.924	A=0.076
The Genome Aggregation Database	American	Sub	838	G=1.000	A=0.000
The Genome Aggregation Database	East Asian	Sub	1616	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18394	G=0.999	A=0.000
The Genome Aggregation Database	Global	Study-wide	29820	G=0.977	A=0.022
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.963	A=0.036
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=1.000	A=0.000

PMID	Title	Author	Journal
22481050	Genetic influences on craving for alcohol.	Agrawal A	Addict Behav
22970239	Genetic association of the KLK4 locus with risk of prostate cancer.	Lose F	PLoS One

SNP ID	p-value	Traits	Study
rs198967	1.84E-05	alcohol craving with or without dependence	22481050

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

rs198967