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: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1998 1998