Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins 2
rs267606614
ATP6 ; ND4 ; COX3 ; ND3 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins 2
rs1410388157
SURF2 ; SURF1
1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins 1
rs199474672
ND2 ; COX1 ; TRNW
0.925 0.160 MT 5537 non coding transcript exon variant -/T ins 2
rs1554768246
SURF1
1.000 0.120 9 133352134 frameshift variant -/T delins 1
rs587776949
NDUFS4
0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 2
rs121918658
SURF1
0.925 0.120 9 133352074 missense variant A/C snv 2
rs397514662
CUTC ; COX15
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 2
rs587776497
MIR3944 ; ECHS1
0.925 0.120 10 133373332 start lost A/C;G snv 1.0E-05 2
rs565224393
NARS2
0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 1
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 5
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 4
rs398122806
SURF1
0.925 0.120 9 133352518 missense variant A/G snv 2
rs1319811735
SURF1
1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06 1
rs1352878283
NCAPH2 ; SCO2
1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06 1
rs1554059248
NDUFS4
1.000 0.120 5 53646231 splice acceptor variant A/G snv 1
rs587776440
CYTB ; ND5
1.000 0.120 MT 13514 missense variant A/G snv 1
rs764276946
NDUFS8 ; MIR4691 ; MIR7113
1.000 0.120 11 68033254 missense variant A/G snv 2.1E-05 1.4E-05 1
rs782024654
SURF2 ; SURF1
1.000 0.120 9 133354713 missense variant A/G snv 7.0E-06 1
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv 3
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs1161932777
EME2 ; MRPS34 ; NME3
0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06 2
rs587780529
COX3 ; ND3 ; ND4L ; ND4
1.000 0.120 MT 10134 missense variant C/A snv 1