rs121908305, GBA

N. diseases: 1
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 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 1.000 0.120 1 155236379 missense variant C/T snv 8.0E-06 0.800 1.000 9 1995 2014