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: rs1064644
rs1064644
GBA
0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.800 0
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		0.800 0
dbSNP: rs381418
rs381418
GBA
0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 0
dbSNP: rs398123527
rs398123527
GBA
0.827 0.120 1 155236298 missense variant C/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 0
dbSNP: rs398123530
rs398123530
GBA
0.851 0.120 1 155238597 missense variant G/A snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 0
dbSNP: rs398123530
rs398123530
GBA
0.851 0.120 1 155238597 missense variant G/A snv 4.0E-06
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.800 0
dbSNP: rs398123532
rs398123532
GBA
0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 0
dbSNP: rs409652
rs409652
GBA
0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.800 0
dbSNP: rs409652
rs409652
GBA
0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 0
dbSNP: rs421016
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.800 0
dbSNP: rs104886460
rs104886460
GBA
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.700 0
dbSNP: rs104886460
rs104886460
GBA
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs104886460
rs104886460
GBA
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.700 0
dbSNP: rs104886460
rs104886460
GBA
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 0
dbSNP: rs104886460
rs104886460
GBA
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.700 0
dbSNP: rs104886460
rs104886460
GBA
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		0.700 0
dbSNP: rs1064644
rs1064644
GBA
0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 0
dbSNP: rs1064644
rs1064644
GBA
0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 0
dbSNP: rs1064644
rs1064644
GBA
0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		0.700 0
dbSNP: rs1064644
rs1064644
GBA
0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.700 0
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.700 0
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.700 0
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 0
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.700 0