rs121917767, UCHL1

N. diseases: 6
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.
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
115 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2002 2002
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2017 2017
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2003 2003
Sporadic Parkinson disease
CUI: C4511452
Disease: Sporadic Parkinson disease
65 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2008 2008
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.100 1.000 11 1999 2017
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
1 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.800 1.000 3 1998 2003