rs376281345, 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 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 3 2003 2010
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 0.700 0