CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36
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: 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: 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: 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: rs29001685
rs29001685 		1.000 0.120 1 150796863 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 2 2000 2011
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: rs375958814
rs375958814 		1.000 0.120 1 150796855 stop gained G/A;C;T snv 1.2E-05; 4.0E-06; 4.0E-06
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 4 1999 2014
dbSNP: rs371277428
rs371277428 		1.000 0.120 1 150806209 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2007 2016
dbSNP: rs1057517252
rs1057517252 		1.000 0.120 1 150806780 missense variant A/G snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 1999 2000
dbSNP: rs1057516514
rs1057516514 		1.000 0.120 1 150804213 frameshift variant A/- delins
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1553196900
rs1553196900 		1.000 0.120 1 150799182 stop gained C/T snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2001 2001
dbSNP: rs1553196906
rs1553196906 		1.000 0.120 1 150799232 frameshift variant G/- delins
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2001 2001
dbSNP: rs202040269
rs202040269 		1.000 0.120 1 150804071 stop gained G/A 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 1999 1999
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: rs1057516587
rs1057516587 		1.000 0.120 1 150806226 splice acceptor variant T/C snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057516627
rs1057516627 		1.000 0.120 1 150804189 frameshift variant TCCAGGGCACCCACAGAGCTAAAAGCCC/- delins
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057516725
rs1057516725 		1.000 0.120 1 150805865 frameshift variant T/-;TT delins
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057516790
rs1057516790 		1.000 0.120 1 150806758 frameshift variant C/- del
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057516839
rs1057516839 		1.000 0.120 1 150805859 splice donor variant A/- del
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057516891
rs1057516891 		1.000 0.120 1 150799680 frameshift variant G/- del
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517263
rs1057517263 		1.000 0.120 1 150806101 splice donor variant 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: rs1057517279
rs1057517279 		1.000 0.120 1 150806685 splice donor variant 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 0
dbSNP: rs1553196764
rs1553196764 		1.000 0.120 1 150796896 coding sequence variant -/GCTGTAAGACCAATCAAGAAAAA delins
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553196934
rs1553196934 		1.000 0.120 1 150799543 splice donor variant 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: rs1553196945
rs1553196945 		1.000 0.120 1 150799659 frameshift variant C/- delins
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553197230
rs1553197230 		1.000 0.120 1 150804020 splice donor variant C/T snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0