rs398122403, SYNJ1

N. diseases: 11
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 20, EARLY-ONSET
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
6 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.700 1.000 3 2013 2017
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.050 1.000 5 2013 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.020 1.000 2 2015 2018
Cognitive deterioration
CUI: C0854193
Disease: Cognitive deterioration
3 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2013 2013
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2015 2015
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2015 2015
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
37 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
Tauopathies
CUI: C0949664
Disease: Tauopathies
43 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
32 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018