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: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.850 1.000 23 1988 2018
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.800 0.966 29 1994 2019
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.710 1.000 1 2014 2014
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C2676021
Disease: DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO
DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		0.700 0
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0085623
Disease: Akinesia
Akinesia 		0.700 0
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		0.700 0
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.700 0
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.700 0
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		0.700 0
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 0.955 22 2004 2020
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.030 1.000 3 2014 2020
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.020 1.000 2 2013 2016
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0497327
Disease: Dementia
Dementia 		0.020 1.000 2 2014 2017
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.020 1.000 2 2014 2017
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C2350529
Disease: Pulmonary Aspergillosis
Pulmonary Aspergillosis 		0.010 1.000 1 2014 2014
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 1.000 1 2009 2009
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2008 2008
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.010 1.000 1 2020 2020
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2018 2018
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2008 2008
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2008 2008
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections 		0.010 1.000 1 2014 2014