rs74500255, GBA

N. diseases: 4
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.
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
124 0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 1.4E-05 0.800 1.000 2 2008 2009
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 1.4E-05 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 1.4E-05 0.700 0
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
19 0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 1.4E-05 0.700 0