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.
Congenital lactic acidosis
CUI: C4025276
Disease: Congenital lactic acidosis
5 0.925 0.080 19 7631476 stop gained C/T snv 7.3E-06 0.700 1.000 1 2015 2015
Cytochrome-c Oxidase Deficiency
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
44 0.925 0.080 19 7631476 stop gained C/T snv 7.3E-06 0.700 1.000 1 2015 2015