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.
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.851 0.160 4 41747479 missense variant C/A snv 0.010 1.000 1 2014 2014
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.851 0.160 4 41747479 missense variant C/A snv 0.010 1.000 1 2014 2014
Congenital central hypoventilation
CUI: C1275808
Disease: Congenital central hypoventilation
15 0.851 0.160 4 41747479 missense variant C/A snv 0.010 1.000 1 2014 2014
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.851 0.160 4 41747479 missense variant C/A snv 0.010 1.000 1 2014 2014