KLK1, kallikrein 1, 3816

N. diseases: 132; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5515
rs5515
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C1835808
Disease:
Kallikrein, Decreased Urinary Activity of
T 0.700 GeneticVariation CLINVAR
dbSNP: rs5516
rs5516
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE This study suggests that rs5516 in the KLK1 gene may be involved in the development of essential hypertension and in the regulation of SBP-lowering response to irbesartan in Chinese hypertensives. 20613781 2011
dbSNP: rs5516
rs5516
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE The haplotype composed of the rs5517 A and rs5516 G allele significantly increased the risk of hypertension, with adjusted OR of 1.12 [95% confidence interval (CI), 1.04-1.28, P=0.0377] when compared with the common haplotype G-C. Diplotype analysis also showed a significant association between the diplotype of AG-AC and essential hypertension (OR=1.34, 95% CI, 1.07-1.68, P=0.0096). 17762646 2007
dbSNP: rs5516
rs5516
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0003486
Disease:
Aortic Aneurysm
0.010 GeneticVariation BEFREE The KLK1 rs5516 G allele is closely associated with AA, and the ACE D allele is closely related to AA and AS. 27858843 2016
dbSNP: rs5516
rs5516
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0340629
Disease:
Aortic aneurysm without mention of rupture NOS
0.010 GeneticVariation BEFREE The KLK1 rs5516 G allele is closely associated with AA, and the ACE D allele is closely related to AA and AS. 27858843 2016
dbSNP: rs5516
rs5516
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE This study aimed to determine the connection between polymorphisms of kallikrein kinin system including KLK1 (rs5516), KNG1 (rs710446, rs2304456) and ACE (rs4291, rs4309, rs4343) and late-onset Alzheimer's disease (LOAD). 26884824 2015
dbSNP: rs5516
rs5516
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0162871
Disease:
Aortic Aneurysm, Abdominal
0.010 GeneticVariation BEFREE After adjusting for other risk factors the G allele of the rs5516 polymorphism was associated with large but not small AAA using a dominant model in the Western Australian men and a recessive model in Queensland subjects. 21571276 2011
dbSNP: rs5516
rs5516
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The haplotype composed of the rs5517 A and rs5516 G allele significantly increased the risk of hypertension, with adjusted OR of 1.12 [95% confidence interval (CI), 1.04-1.28, P=0.0377] when compared with the common haplotype G-C. Diplotype analysis also showed a significant association between the diplotype of AG-AC and essential hypertension (OR=1.34, 95% CI, 1.07-1.68, P=0.0096). 17762646 2007
dbSNP: rs5517
rs5517
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE The present study suggested that rs5517 in the KLK1 gene was significantly associated with essential hypertension in a Chinese Han population. 17762646 2007
dbSNP: rs5517
rs5517
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The haplotype composed of the rs5517 A and rs5516 G allele significantly increased the risk of hypertension, with adjusted OR of 1.12 [95% confidence interval (CI), 1.04-1.28, P=0.0377] when compared with the common haplotype G-C. Diplotype analysis also showed a significant association between the diplotype of AG-AC and essential hypertension (OR=1.34, 95% CI, 1.07-1.68, P=0.0096). 17762646 2007