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: 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
dbSNP: rs1553197239
rs1553197239 		1.000 0.120 1 150804062 frameshift variant GG/C delins
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553197262
rs1553197262 		1.000 0.120 1 150804240 splice acceptor variant C/G snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557823855
rs1557823855 		1.000 0.120 1 150796899 splice acceptor variant C/A snv
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs74315301
rs74315301 		1.000 0.120 1 150796799 stop lost 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: 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: 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
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: 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