CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
Disease: Neuronal Ceroid-Lipofuscinoses ×
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: rs796052407
rs796052407 		1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009