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.
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.200 MT 3946 missense variant G/A snv 0.700 1.000 4 2004 2011
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.882 0.200 MT 3946 missense variant G/A snv 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.882 0.200 MT 3946 missense variant G/A snv 0.010 1.000 1 2017 2017