UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
Disease: Parkinson Disease ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 0.926 27 2000 2017
dbSNP: rs121917767
rs121917767 		0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 1.000 11 1999 2017
dbSNP: rs397515634
rs397515634 		0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs745957339
rs745957339 		1.000 0.040 4 41257617 missense variant C/A;T snv 5.7E-05; 1.3E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011