UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
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: 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: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 		0.800 1.000 3 1998 2003
dbSNP: rs397515634
rs397515634 		0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.800 1.000 2 2013 2017
dbSNP: rs768996179
rs768996179 		1.000 4 41264109 missense variant G/A snv 5.2E-05
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.800 1.000 2 2013 2017
dbSNP: rs1057519600
rs1057519600 		1.000 4 41268048 missense variant C/A snv
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs1554004931
rs1554004931 		1.000 4 41261925 splice donor variant T/C snv
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.700 0
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: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.060 0.833 6 2001 2011
dbSNP: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2002 2009
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: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2008 2008
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: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2017 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: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2003 2003
dbSNP: rs397515634
rs397515634 		0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2017 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: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2006 2006
dbSNP: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs5030732
rs5030732 		0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2012 2012
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