rs104893877, SNCA

N. diseases: 59
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.
Autosomal Dominant Parkinsonism
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
3 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 1998 1998
Lewy Body Variant of Alzheimer Disease
CUI: C1851958
Disease: Lewy Body Variant of Alzheimer Disease
2 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2000 2000
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
32 0.614 0.360 4 89828149 missense variant C/T snv 0.040 0.750 4 1997 2002
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2002 2003
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2002 2006
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
20 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2007 2007
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2008 2008
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2008 2008
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2008 2008
Secondary Parkinson Disease
CUI: C0030569
Disease: Secondary Parkinson Disease
1 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2008 2008
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.614 0.360 4 89828149 missense variant C/T snv 0.760 1.000 6 1998 2010
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
16 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
Behavioral Symptoms
CUI: C0004941
Disease: Behavioral Symptoms
9 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2012 2012
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
115 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2007 2013
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2013 2013
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
23 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2013 2013
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
5 0.614 0.360 4 89828149 missense variant C/T snv 0.800 1.000 7 1997 2015
Sleep Disorders
CUI: C0851578
Disease: Sleep Disorders
38 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2013 2015
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2015 2015
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016