PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
Disease: Central neuroblastoma ×
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: 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: 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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 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