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.
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017
Mitochondrial encephalopathy
CUI: C1852373
Disease: Mitochondrial encephalopathy
8 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017