rs878853317, GBA

N. diseases: 2
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 1.000 0.120 1 155235241 missense variant C/T snv 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 1.000 0.120 1 155235241 missense variant C/T snv 0.700 0