Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs28384199
ND5 ; ND4
0.882 0.160 MT 11777 missense variant C/A;G snv 3
rs757043077
NDUFAF5
0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 3
rs150667550
NDUFS2
0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04 2
rs376281345
NDUFS4
0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 2
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins 2
rs587776949
NDUFS4
0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 2