rs364897, GBA

N. diseases: 6
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 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.810 1.000 21 1990 2006
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.800 1.000 3 1996 2014
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.710 1.000 8 2004 2019
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.700 0
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
19 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.700 0
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
17 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.010 1.000 1 2019 2019