rs75822236, GBA

N. diseases: 10
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 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.810 1.000 11 1993 2017
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.710 1.000 3 1993 2008
Intracranial Aneurysm
CUI: C0007766
Disease: Intracranial Aneurysm
150 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 1.000 1 2019 2019
GAUCHER DISEASE, PERINATAL LETHAL
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
18 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
19 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.020 1.000 2 2004 2018