rs61748906, 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 155238228 missense variant A/G snv 8.0E-06 2.8E-05 0.800 1.000 20 1990 2006
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 2.8E-05 0.700 1.000 4 2000 2015
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 2.8E-05 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 2.8E-05 0.700 0