Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909366
GHR
0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 3
rs758802403
LONP1
0.882 0.280 19 5694510 missense variant C/T snv 2.0E-05 2.1E-05 3
rs764931850
LONP1
0.882 0.280 19 5696750 missense variant A/G snv 3
rs758265405
LONP1 ; RPL36
0.882 0.280 19 5692127 missense variant C/T snv 1.6E-05 3
rs565224393
NARS2
0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 3
rs199476118
ND1 ; ND2
0.925 0.160 MT 3460 missense variant G/A snv 3
rs199476144
ND1 ; TRNV
0.925 0.200 MT 1624 non coding transcript exon variant C/T snv 3
rs199476123
ND2 ; ND1 ; COX1
0.882 0.200 MT 3946 missense variant G/A snv 3
rs267606891
ND4 ; COX3 ; ND3 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv 3
rs199476135
ND4 ; ND4L ; ND3 ; COX3 ; ATP6
0.882 0.120 MT 9176 missense variant T/C;G snv 3
rs28384199
ND5 ; ND4
0.882 0.160 MT 11777 missense variant C/A;G snv 3
rs199476109
ND6 ; CYTB ; ND5
0.882 0.120 MT 14487 missense variant T/C 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
rs104894270
NDUFS3
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 3
rs28939714
NDUFS3
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 3
rs9809219
SDHA
0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 3
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 3
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 3
rs267606614
ATP6 ; ND4 ; COX3 ; ND3 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins 2
rs199476136
ATP8 ; ND3 ; COX3 ; ND4 ; ATP6 ; ND4L
0.925 0.120 MT 8851 missense variant T/C snv 2
rs121908577
BCS1L
0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 2
rs398122972
C12orf65 ; CDK2AP1
0.925 0.120 12 123256876 frameshift variant G/- del 2
rs267606889
COX1 ; ND2 ; ND1
0.925 0.120 MT 4681 missense variant T/C snv 2
rs267606890
COX3 ; ND4 ; ND3 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv 2
rs149718203
CUTC ; COX15
0.925 0.120 10 99727098 stop gained G/C snv 2.5E-04 2.9E-04 2