rs80356769, GBA

N. diseases: 8
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 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.800 1.000 26 1989 2011
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 1.000 3 1989 2014
GAUCHER DISEASE, PERINATAL LETHAL
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
18 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
19 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0