PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Leukodystrophy, Metachromatic ×
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: rs754680319
rs754680319 		1.000 0.120 10 71819769 missense variant C/G snv 1.6E-05
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs770171865
rs770171865 		0.925 0.120 10 71828089 missense variant G/T snv 2.4E-05
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999