rs1289324472, GBA

N. diseases: 21
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
CUI: C0017205
Disease: Gaucher Disease
82 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.100 0.962 26 1998 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.100 0.950 20 2004 2019
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
124 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.040 1.000 4 2003 2010
Dementia
CUI: C0497327
Disease: Dementia
176 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2014 2017
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2014 2014
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2013 2016
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2014 2017
Anemia
CUI: C0002871
Disease: Anemia
94 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
Bone Diseases
CUI: C0005940
Disease: Bone Diseases
10 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 1998 1998
Congenital absence of spleen
CUI: C0600031
Disease: Congenital absence of spleen
6 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2003 2003
Hypoalphalipoproteinemias
CUI: C0473527
Disease: Hypoalphalipoproteinemias
7 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
Lysosomal Storage Diseases
CUI: C0085078
Disease: Lysosomal Storage Diseases
8 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
591 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2018 2018
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
182 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
Tremor
CUI: C0040822
Disease: Tremor
52 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014