PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
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: rs121918110
rs121918110 		1.000 0.120 10 71819860 missense variant A/G snv
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1991 2007
dbSNP: rs11000019
rs11000019 		1.000 0.080 10 71831773 intron variant G/A snv 3.3E-02
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.800 1.000 1 2013 2013
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: rs121918103
rs121918103 		1.000 0.120 10 71828084 missense variant G/A snv 7.6E-05 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2005 2016
dbSNP: rs121918104
rs121918104 		0.925 0.120 10 71825892 missense variant C/G snv
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121918104
rs121918104 		0.925 0.120 10 71825892 missense variant C/G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 1 2009 2009
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: rs121918105
rs121918105 		1.000 0.120 10 71819761 missense variant C/A snv
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918106
rs121918106 		0.925 0.120 10 71851221 start lost T/A;C snv 1.3E-05; 6.5E-06
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918106
rs121918106 		0.925 0.120 10 71851221 start lost T/A;C snv 1.3E-05; 6.5E-06
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918108
rs121918108 		1.000 0.120 10 71819762 missense variant A/C snv
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918109
rs121918109 		1.000 0.120 10 71819527 stop gained G/A snv
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
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
dbSNP: rs1554879741
rs1554879741 		0.851 0.120 10 71819093 stop gained C/A snv
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554879741
rs1554879741 		0.851 0.120 10 71819093 stop gained C/A snv
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554879741
rs1554879741 		0.851 0.120 10 71819093 stop gained C/A snv
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs779322625
rs779322625 		1.000 0.120 10 71819083 missense variant G/A snv 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2017 2019
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