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: rs9809219
rs9809219
SDHA
3 0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs863224926
rs863224926
SURF1 ; SURF2
1 1.000 0.120 9 133356268 splice donor variant C/G snv 0.700 1.000 1 2012 2012
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
4 0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
3 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 1.000 5 1998 2015
dbSNP: rs782623477
rs782623477
SURF1
1 1.000 0.120 9 133352509 stop gained G/A snv 1.1E-04 7.0E-05 0.700 1.000 6 1999 2014
dbSNP: rs782609482
rs782609482
SURF1
4 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs782490558
rs782490558
SURF1
3 0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 0.700 1.000 2 2013 2015
dbSNP: rs782349178
rs782349178
SURF1
1 1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05 0.700 1.000 5 2006 2013
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 1.000 5 1998 2013
dbSNP: rs782190413
rs782190413
SURF1
2 0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 0.700 1.000 5 2002 2014
dbSNP: rs782033035
rs782033035
SURF1
1 1.000 0.120 9 133353894 missense variant C/T snv 1.2E-05 0.700 1.000 7 1998 2012
dbSNP: rs782024654
rs782024654
SURF1 ; SURF2
1 1.000 0.120 9 133354713 missense variant A/G snv 7.0E-06 0.700 1.000 7 1998 2012
dbSNP: rs782007828
rs782007828
SURF1
1 1.000 0.120 9 133352139 splice acceptor variant CTCT/-;CT delins 4.5E-06; 4.5E-06 7.0E-06 0.700 1.000 3 2012 2014
dbSNP: rs776825296
rs776825296
COQ4
1 1.000 0.120 9 128325849 missense variant G/A;C snv 1.2E-04; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs774232299
rs774232299
NDUFS1
1 1.000 0.120 2 206144019 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs772794204
rs772794204
NDUFS1
1 1.000 0.120 2 206144934 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs772294726
rs772294726
NDUFAF2
1 1.000 0.120 5 61098995 stop gained G/A snv 2.0E-05 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs764931850
rs764931850
LONP1
3 0.882 0.280 19 5696750 missense variant A/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs764276946
rs764276946
NDUFS8 ; MIR4691 ; MIR7113
1 1.000 0.120 11 68033254 missense variant A/G snv 2.1E-05 1.4E-05 0.700 0
dbSNP: rs762620949
rs762620949
NDUFAF6
1 1.000 0.120 8 95048461 missense variant G/A;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs762425351
rs762425351
CRAT
8 0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 0.010 1.000 1 2020 2020
dbSNP: rs759504704
rs759504704
NARS2
4 0.882 0.200 11 78436786 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs759452074
rs759452074
SCO2 ; NCAPH2
2 0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs758802403
rs758802403
LONP1
3 0.882 0.280 19 5694510 missense variant C/T snv 2.0E-05 2.1E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs758265405
rs758265405
LONP1 ; RPL36
3 0.882 0.280 19 5692127 missense variant C/T snv 1.6E-05 0.010 < 0.001 1 2018 2018