KLK1, kallikrein 1, 3816

N. diseases: 132; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5515
rs5515 		19 50820420 missense variant C/T snv 3.1E-02 5.2E-02
CUI: C1835808
Disease: Kallikrein, Decreased Urinary Activity of
Kallikrein, Decreased Urinary Activity of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs5516
rs5516 		0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2007 2011
dbSNP: rs5516
rs5516 		0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs5516
rs5516 		0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs5516
rs5516 		0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5516
rs5516 		0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67
CUI: C0340629
Disease: Aortic aneurysm without mention of rupture NOS
Aortic aneurysm without mention of rupture NOS 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5516
rs5516 		0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs5517
rs5517 		1.000 0.040 19 50819976 missense variant T/C;G snv 0.33
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs5517
rs5517 		1.000 0.040 19 50819976 missense variant T/C;G snv 0.33
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2007 2007