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: rs150667550
rs150667550
NDUFS2
2 0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs373436822
rs373436822
IARS2
1 1.000 0.120 1 220126827 stop gained G/A snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs121908577
rs121908577
BCS1L
2 0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 5 2007 2015
dbSNP: rs713993048
rs713993048
SLC19A3
2 0.925 0.120 2 227702299 stop gained G/T snv 0.010 1.000 1 2013 2013
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: 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: rs121908576
rs121908576
BCS1L ; ZNF142
4 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.700 0
dbSNP: rs149481081
rs149481081
TIMMDC1
1 1.000 0.120 3 119517281 stop gained C/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587776949
rs587776949
NDUFS4
2 0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 0.700 1.000 4 2008 2014
dbSNP: rs137852767
rs137852767
SDHA
2 0.925 0.120 5 251011 missense variant C/T snv 0.700 1.000 3 1995 2015
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 1.000 3 2003 2010
dbSNP: rs121909366
rs121909366
GHR
3 0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 0.010 1.000 1 1997 1997
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 1 2005 2005
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: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
dbSNP: rs1554059248
rs1554059248
NDUFS4
1 1.000 0.120 5 53646231 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554062427
rs1554062427
NDUFS4
1 1.000 0.120 5 53683163 frameshift variant CC/- del 0.700 0
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: 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: rs121918658
rs121918658
SURF1
2 0.925 0.120 9 133352074 missense variant A/C snv 0.700 1.000 7 1998 2012
dbSNP: rs28933402
rs28933402
SURF1
2 0.925 0.120 9 133353893 missense variant C/T snv 0.700 1.000 7 1998 2012
dbSNP: rs398122806
rs398122806
SURF1
2 0.925 0.120 9 133352518 missense variant A/G snv 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: 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