Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.810 1.000 11 1993 2017
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.710 1.000 3 1993 2008
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.700 1.000 1 2019 2019
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.700 0
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 0
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		0.700 0
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.700 0
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.700 0
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2004 2018