PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
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: 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: 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: rs71653619
rs71653619 		1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2006 2007
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: rs1290094897
rs1290094897 		1.000 0.040 1 7962815 synonymous variant G/T snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs145196092
rs145196092 		1.000 0.040 1 7970960 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs74315352
rs74315352 		0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs7517357
rs7517357 		1.000 0.040 1 7965215 intron variant C/T snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2012 2012