Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28384199
rs28384199
ND4 ; ND5
3 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 0
dbSNP: rs373075574
rs373075574
FOXRED1
1 1.000 0.040 11 126273068 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs398124308
rs398124308
FOXRED1
2 0.925 0.120 11 126275000 frameshift variant -/AGTG delins 0.700 1.000 1 2012 2012
dbSNP: rs536400690
rs536400690
FOXRED1
1 1.000 0.040 11 126275327 missense variant G/C snv 2.6E-04 7.0E-05 0.700 0
dbSNP: rs757043077
rs757043077
NDUFAF5
3 0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs150667550
rs150667550
NDUFS2
2 0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04 0.700 1.000 2 2010 2013
dbSNP: rs752513525
rs752513525
NDUFA13
3 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs142609245
rs142609245
NDUFB3
3 0.882 0.040 2 201078946 missense variant T/C snv 8.5E-04 1.1E-03 0.700 0
dbSNP: rs1485032272
rs1485032272
NDUFS1
1 1.000 0.040 2 206144919 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs750971390
rs750971390
NDUFS1
1 1.000 0.040 2 206152508 stop gained G/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
7 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs118161496
rs118161496
NUBPL
2 1.000 0.040 14 31850092 non coding transcript exon variant T/C snv 3.4E-03 3.4E-03 0.700 0
dbSNP: rs786205225
rs786205225
NDUFB11
4 0.851 0.200 X 47142690 stop gained G/A snv 0.700 0
dbSNP: rs138867882
rs138867882
NDUFS3 ; KBTBD4
1 1.000 0.040 11 47580977 missense variant G/A snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs771783839
rs771783839
NDUFS3
1 1.000 0.040 11 47582437 missense variant G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs267606888
rs267606888
COX1 ; ND2
1 1.000 0.040 MT 4810 stop gained G/A snv 0.700 0
dbSNP: rs199476116
rs199476116
COX1 ; ND2
1 1.000 0.040 MT 5132 frameshift variant AA/- delins 0.700 0
dbSNP: rs104893899
rs104893899
NDUFS4
1 1.000 0.040 5 53560706 stop gained G/A snv 0.700 0
dbSNP: rs376281345
rs376281345
NDUFS4
2 0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121908985
rs121908985
NDUFS4
1 1.000 0.040 5 53646345 frameshift variant G/- delins 0.700 0
dbSNP: rs104893898
rs104893898
NDUFS4
1 1.000 0.040 5 53646371 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs747359752
rs747359752
NDUFS4
1 1.000 0.040 5 53658555 missense variant G/C snv 8.0E-06 0.700 0
dbSNP: rs587776949
rs587776949
NDUFS4
2 0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 0.700 0
dbSNP: rs1445075330
rs1445075330
NDUFS4
1 1.000 0.040 5 53683157 frameshift variant -/AAGTC delins 4.0E-06 0.700 0
dbSNP: rs137852863
rs137852863
NDUFAF2
5 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 0.700 1.000 2 2005 2016