rs28938172, PARK7

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.790 0.080 1 7984981 missense variant T/C snv 0.100 1.000 13 2003 2017
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
32 0.790 0.080 1 7984981 missense variant T/C snv 0.030 1.000 3 2008 2012
Autosomal Recessive Parkinsonism
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
1 0.790 0.080 1 7984981 missense variant T/C snv 0.010 1.000 1 2016 2016
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.790 0.080 1 7984981 missense variant T/C snv 0.010 1.000 1 2005 2005
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.790 0.080 1 7984981 missense variant T/C snv 0.010 1.000 1 2005 2005
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.790 0.080 1 7984981 missense variant T/C snv 0.010 1.000 1 2005 2005
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
7 0.790 0.080 1 7984981 missense variant T/C snv 0.800 1.000 1 2013 2013