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.
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
2 0.851 0.120 X 119873312 missense variant G/A;C snv 0.800 1.000 1 2007 2007
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007
Myoclonic Epilepsy
CUI: C0014550
Disease: Myoclonic Epilepsy
9 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007