rs431905511, SNCA

N. diseases: 9
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.
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
5 0.827 0.080 4 89828154 missense variant C/T snv 0.700 0
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.827 0.080 4 89828154 missense variant C/T snv 0.070 1.000 7 2013 2020
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
20 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2020 2020
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2017 2017
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2015 2015
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
CUI: C1850100
Disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
6 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2013 2013
Psychiatric symptom
CUI: C0233401
Disease: Psychiatric symptom
12 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2013 2013
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
10 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2013 2013
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
32 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2013 2013