rs76763715, GBA

N. diseases: 27
Source: BEFREE ×
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
16 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.850 1.000 5 1988 2018
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
50 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.800 0.966 27 1994 2019
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
30 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.710 1.000 1 2014 2014
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
751 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
223 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
165 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
90 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
79 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
12 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
3 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
1441 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2009 2009
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
477 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2018 2018
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
118 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2009 2009
Mycobacterium Infections
CUI: C0026918
Disease: Mycobacterium Infections
14 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2014 2014
Osteopenia
CUI: C0029453
Disease: Osteopenia
38 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
168 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2009 2009
Pulmonary Aspergillosis
CUI: C2350529
Disease: Pulmonary Aspergillosis
4 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2014 2014
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
16 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2018 2018