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.
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
591 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
865 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
61 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
182 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
129 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2018 2018
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
Tremor
CUI: C0040822
Disease: Tremor
52 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2014 2014