CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36
Disease: Pycnodysostosis ×
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: rs74315302
rs74315302 		1.000 0.120 1 150804203 missense variant C/G snv 2.0E-05 1.4E-05
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 6 1996 2015
dbSNP: rs74315303
rs74315303 		1.000 0.120 1 150799607 stop gained G/A;T snv 6.8E-05; 4.0E-06
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 8 1996 2014
dbSNP: rs74315304
rs74315304 		0.925 0.120 1 150799228 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.810 1.000 11 1996 2015
dbSNP: rs74315305
rs74315305 		1.000 0.120 1 150806109 missense variant C/T snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 6 1996 2015
dbSNP: rs74315306
rs74315306 		1.000 0.120 1 150806191 stop gained T/A snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs75481239
rs75481239 		1.000 0.120 1 150804019 splice donor variant A/C;T snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs758450569
rs758450569 		1.000 0.120 1 150799648 frameshift variant -/TT delins 4.0E-06
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs773943327
rs773943327 		1.000 0.120 1 150805970 frameshift variant AG/- del
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs778368118
rs778368118 		1.000 0.120 1 150806803 start lost C/A;T snv 4.0E-06
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2014 2014
dbSNP: rs780202604
rs780202604 		1.000 0.120 1 150806132 stop gained A/T snv 4.0E-06
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs781168584
rs781168584 		1.000 0.120 1 150804061 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0