rs202040269, CTSK

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pycnodysostosis
CUI: C0238402
Disease: Pycnodysostosis
0.700 GeneticVariation CLINVAR Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. 10074491 1999