rs198967

Homo sapiens
G>A
KLK4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
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)
chr19:50909765 (GRCh38.p7) (19q13.41)
AD
GWASdb2
2   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.50909765G>A
GRCh37.p13 chr 19NC_000019.9:g.51413021G>A
KLK4 RefSeqGeneNG_012154.2:g.5974C>T

Gene: KLK4, kallikrein related peptidase 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KLK4 transcript variant 2NM_001302961.1:c.N/AIntron Variant
KLK4 transcript variant 1NM_004917.4:c.N/AIntron Variant
KLK4 transcript variant 3NR_126566.1:n.N/AIntron Variant
KLK4 transcript variant X1XM_011527545.2:c.N/AIntron Variant
KLK4 transcript variant X3XM_011527546.2:c.N/AIntron Variant
KLK4 transcript variant X2XM_005259441.4:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.915A=0.085
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.998A=0.002
1000GenomesGlobalStudy-wide5008G=0.976A=0.024
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8670G=0.924A=0.076
The Genome Aggregation DatabaseAmericanSub838G=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1616G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18394G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29820G=0.977A=0.022
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.963A=0.036
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav
22970239Genetic association of the KLK4 locus with risk of prostate cancer.Lose FPLoS One

P-Value

SNP ID p-value Traits Study
rs1989671.84E-05alcohol craving with or without dependence22481050

eQTL of rs198967 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs198967 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr195143272651432821E07119705