CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
Disease: HAIM-MUNK SYNDROME ×
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: rs104894208
rs104894208 		0.925 0.120 11 88296165 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1855627
Disease: HAIM-MUNK SYNDROME
HAIM-MUNK SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 1 2000 2000