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 6, Autosomal Recessive Early-Onset
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
25 0.790 0.080 1 20644639 missense variant G/A snv 0.800 1.000 21 2004 2014
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.790 0.080 1 20644639 missense variant G/A snv 0.070 0.857 7 2005 2015
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.790 0.080 1 20644639 missense variant G/A snv 0.010 1.000 1 2010 2010
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.790 0.080 1 20644639 missense variant G/A snv 0.010 1.000 1 2010 2010
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.790 0.080 1 20644639 missense variant G/A snv 0.010 1 2005 2005
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.790 0.080 1 20644639 missense variant G/A snv 0.010 1.000 1 2010 2010
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
37 0.790 0.080 1 20644639 missense variant G/A snv 0.010 1.000 1 2017 2017