rs421016, GBA

N. diseases: 2
Source: UNIPROT ×
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
95 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.850 1.000 0 2011 2019
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
16 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.800 0