PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
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: rs1417802320
rs1417802320 		1 7962861 missense variant A/T snv 4.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs161802
rs161802 		1 7982766 intron variant G/T snv 0.25
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2014 2014
dbSNP: rs28938172
rs28938172 		0.790 0.080 1 7984981 missense variant T/C snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 1.000 13 2003 2017
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.700 1.000 12 2003 2013
dbSNP: rs28938172
rs28938172 		0.790 0.080 1 7984981 missense variant T/C snv
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.030 1.000 3 2008 2012
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2005 2013
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.020 1.000 2 2004 2010
dbSNP: rs28938172
rs28938172 		0.790 0.080 1 7984981 missense variant T/C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs28938172
rs28938172 		0.790 0.080 1 7984981 missense variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs28938172
rs28938172 		0.790 0.080 1 7984981 missense variant T/C snv
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs28938172
rs28938172 		0.790 0.080 1 7984981 missense variant T/C snv
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28938172
rs28938172 		0.790 0.080 1 7984981 missense variant T/C snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2005 2005
dbSNP: rs774005786
rs774005786 		0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.800 1.000 13 2003 2013
dbSNP: rs74315352
rs74315352 		0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.800 1.000 13 2003 2013
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.050 0.600 5 2003 2016
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.020 1.000 2 2009 2010
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs74315352
rs74315352 		0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2005 2005