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.
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 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
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
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
Gastrointestinal dysfunction
CUI: C0679407
Disease: Gastrointestinal dysfunction
6 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2018 2019
Fibrillation
CUI: C0232197
Disease: Fibrillation
8 0.614 0.360 4 89828149 missense variant C/T snv 0.070 1.000 7 2001 2018
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
Brain Diseases
CUI: C0006111
Disease: Brain Diseases
10 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2018 2018
CNS metastases
CUI: C0686377
Disease: CNS metastases
14 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2019 2019
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
15 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2018 2020
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
Forgetful
CUI: C0542476
Disease: Forgetful
18 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2019 2019
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
[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, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
27 0.614 0.360 4 89828149 missense variant C/T snv 0.070 1.000 7 1998 2018
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
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
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2019 2019
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
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
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
42 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2018 2018
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2013 2019
Varicosity
CUI: C0042345
Disease: Varicosity
51 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2017 2017