Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9809219
SDHA
0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 3
rs863224926
SURF2 ; SURF1
1.000 0.120 9 133356268 splice donor variant C/G snv 1
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 3
rs782623477
SURF1
1.000 0.120 9 133352509 stop gained G/A snv 1.1E-04 7.0E-05 1
rs782609482
SURF1
1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 4
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 3
rs782349178
SURF1
1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05 1
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs782190413
SURF1
0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 2
rs782033035
SURF1
1.000 0.120 9 133353894 missense variant C/T snv 1.2E-05 1
rs782024654
SURF2 ; SURF1
1.000 0.120 9 133354713 missense variant A/G snv 7.0E-06 1
rs782007828
SURF1
1.000 0.120 9 133352139 splice acceptor variant CTCT/-;CT delins 4.5E-06; 4.5E-06 7.0E-06 1
rs772294726
NDUFAF2
1.000 0.120 5 61098995 stop gained G/A snv 2.0E-05 1.4E-05 1
rs764276946
NDUFS8 ; MIR4691 ; MIR7113
1.000 0.120 11 68033254 missense variant A/G snv 2.1E-05 1.4E-05 1
rs762620949
NDUFAF6
1.000 0.120 8 95048461 missense variant G/A;T snv 4.0E-06 7.0E-06 1
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 7
rs759452074
SCO2 ; NCAPH2
0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05 2
rs757043077
NDUFAF5
0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 2
rs713993048
SLC19A3
0.925 0.120 2 227702299 stop gained G/T snv 1
rs587780529
COX3 ; ND3 ; ND4L ; ND4
1.000 0.120 MT 10134 missense variant C/A snv 1
rs587776949
NDUFS4
0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 2
rs587776498
MIR3944 ; ECHS1
0.925 0.120 10 133373329 missense variant G/A;C snv 1.0E-05 2
rs587776497
MIR3944 ; ECHS1
0.925 0.120 10 133373332 start lost A/C;G snv 1.0E-05 2
rs587776444
COX3 ; ND3 ; ATP6 ; ATP8 ; ND4 ; ND4L
1.000 0.120 MT 8989 missense variant G/C snv 1