rs76763715, GBA

N. diseases: 35
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 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.850 1.000 23 1988 2018
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.800 0.966 29 1994 2019
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.710 1.000 1 2014 2014
Akinesia
CUI: C0085623
Disease: Akinesia
3 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO
CUI: C2676021
Disease: DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO
2 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
GAUCHER DISEASE, PERINATAL LETHAL
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
18 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
19 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.100 0.955 22 2004 2020
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.030 1.000 3 2014 2020
Dementia
CUI: C0497327
Disease: Dementia
176 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2014 2017
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2013 2016
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2014 2017
Anemia
CUI: C0002871
Disease: Anemia
94 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
Bone Diseases
CUI: C0005940
Disease: Bone Diseases
10 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 1998 1998
Bronchopulmonary Aspergillosis
CUI: C2350530
Disease: Bronchopulmonary Aspergillosis
4 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2014 2014
Canavan Disease
CUI: C0206307
Disease: Canavan Disease
65 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2018 2018
Congenital absence of spleen
CUI: C0600031
Disease: Congenital absence of spleen
6 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2003 2003
Depressive Symptoms
CUI: C0086132
Disease: Depressive Symptoms
120 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2020 2020
Hypoalphalipoproteinemias
CUI: C0473527
Disease: Hypoalphalipoproteinemias
7 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2002 2002
Lysosomal Storage Diseases
CUI: C0085078
Disease: Lysosomal Storage Diseases
8 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2009 2009
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2009 2009