PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency ×
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: rs121918103
rs121918103 		1.000 0.120 10 71828084 missense variant G/A snv 7.6E-05 1.4E-05
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 5 1990 2000
dbSNP: rs121918104
rs121918104 		0.925 0.120 10 71825892 missense variant C/G snv
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 5 1990 2000
dbSNP: rs121918107
rs121918107 		1.000 0.120 10 71828091 missense variant T/G snv
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 5 1990 2000
dbSNP: rs770171865
rs770171865 		0.925 0.120 10 71828089 missense variant G/T snv 2.4E-05
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 1990 2000
dbSNP: rs1431844269
rs1431844269 		1.000 0.120 10 71828053 inframe deletion CTT/- del 2.8E-05
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1564815053
rs1564815053 		1.000 0.120 10 71819547 frameshift variant A/- del
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1554879741
rs1554879741 		0.851 0.120 10 71819093 stop gained C/A snv
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0