rs398123532, GBA

N. diseases: 5
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 0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05 0.800 0
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05 0.700 1.000 3 2000 2006
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05 0.700 0
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
19 0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05 0.700 0