CTSF, cathepsin F, 8722

N. diseases: 33; N. variants: 12
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: rs765758974
rs765758974
1.000 0.120 11 66567559 stop gained G/A;T snv 4.0E-06; 2.8E-05
Adult Neuronal Ceroid Lipofuscinosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018