rs398123530, 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 0.851 0.120 1 155238597 missense variant G/A snv 4.0E-06 0.800 0
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
16 0.851 0.120 1 155238597 missense variant G/A snv 4.0E-06 0.800 0