rs121918104, PSAP

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Metachromatic Leukodystrophy due to Saposin B Deficiency
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
7 0.925 0.120 10 71825892 missense variant C/G snv 0.800 1.000 5 1990 2000
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.925 0.120 10 71825892 missense variant C/G snv 0.700 1.000 1 2009 2009
Combined Saposin Deficiency
CUI: C2673635
Disease: Combined Saposin Deficiency
3 0.925 0.120 10 71825892 missense variant C/G snv 0.700 1.000 1 2009 2009