PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Combined Saposin 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: 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: 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: 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