rs747506979, GBA

N. diseases: 4
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 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.800 1.000 2 2008 2009
Anemia
CUI: C0002871
Disease: Anemia
94 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0