Disease: Ceroid Lipofuscinosis, Neuronal, 7 ×
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: rs1560776422
rs1560776422 		1.000 0.120 4 127957591 splice acceptor variant C/A snv
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0