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: 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