rs104893875, SNCA

N. diseases: 13
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
CUI: C0030567
Disease: Parkinson Disease
990 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.100 1.000 28 2005 2019
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
5 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.700 1.000 7 1997 2015
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.860 1.000 6 2004 2019
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
27 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.020 1.000 2 2006 2015
Channelopathies
CUI: C1720983
Disease: Channelopathies
8 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1 2010 2010
Dementia
CUI: C0497327
Disease: Dementia
176 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
Pure Autonomic Failure
CUI: C0393911
Disease: Pure Autonomic Failure
3 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
Small Fiber Neuropathy
CUI: C3276706
Disease: Small Fiber Neuropathy
8 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
32 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019