Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894270
NDUFS3
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 1
rs104894705
NDUFS7
0.925 0.120 19 1391006 missense variant G/A snv 5.6E-05 8.4E-05 1
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 1
rs1131692037
MRPS34 ; EME2 ; NME3
0.925 0.120 16 1773083 stop gained C/A;T snv 2
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 1
rs113994093
POLG
1.000 0.120 15 89330241 missense variant C/T snv 1.2E-05 1.4E-05 1
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 10
rs1161932777
EME2 ; MRPS34 ; NME3
0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06 2
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 5
rs118192100
ND3 ; TRNK ; ATP8 ; COX2 ; COX3 ; ATP6
0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 4
rs121908576
ZNF142 ; BCS1L
0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 4
rs121908577
BCS1L
0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 2
rs121909366
GHR
0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 1
rs121918657
SURF1
0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 2
rs121918658
SURF1
0.925 0.120 9 133352074 missense variant A/C snv 2
rs1267554976
NDUFS8
1.000 0.120 11 68036321 start lost G/A;C snv 3.5E-05 1
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
rs137852767
SDHA
0.925 0.120 5 251011 missense variant C/T snv 2
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs1391748504
SURF1
1.000 0.120 9 133352143 splice acceptor variant C/G snv 7.0E-06 1
rs1410388157
SURF2 ; SURF1
1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins 1
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs147816470
SURF1
1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05 1