PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
Disease: Autosomal Recessive Parkinsonism ×
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: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		Nervous System Diseases 0.010 1.000 1 2016 2016