rs587776949, NDUFS4

N. diseases: 2
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 0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 0.700 1.000 4 2008 2014
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 0.700 0