rs878853315, 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.
Anemia
CUI: C0002871
Disease: Anemia
94 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
124 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0