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: rs587776440
rs587776440
CYTB ; ND5
1 1.000 0.120 MT 13514 missense variant A/G snv 0.700 1.000 4 2001 2004
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: rs121918657
rs121918657
SURF1
2 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 1.000 3 1998 2013
dbSNP: rs137852767
rs137852767
SDHA
2 0.925 0.120 5 251011 missense variant C/T snv 0.700 1.000 3 1995 2015
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
4 0.851 0.200 MT 14459 missense variant G/A snv 0.700 1.000 3 1994 2000
dbSNP: rs267606896
rs267606896
CYTB ; ND5
3 0.882 0.200 MT 13084 missense variant A/T snv 0.700 1.000 3 2002 2007
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: 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: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
5 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 1.000 2 1991 1993
dbSNP: rs199474672
rs199474672
COX1 ; ND2 ; TRNW
2 0.925 0.160 MT 5537 non coding transcript exon variant -/T ins 0.700 1.000 2 1997 2003
dbSNP: rs201431517
rs201431517
MTFMT
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
dbSNP: rs28384199
rs28384199
ND4 ; ND5
3 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 1.000 2 2003 2004
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: rs113994093
rs113994093
POLG
1 1.000 0.120 15 89330241 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2009 2009
dbSNP: rs113994098
rs113994098
POLG
12 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 1 2009 2009
dbSNP: rs1161932777
rs1161932777
NME3 ; MRPS34 ; EME2
2 0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06 0.700 1.000 1 1986 1986
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
4 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1352878283
rs1352878283
SCO2 ; NCAPH2
1 1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06 0.700 1.000 1 2016 2016
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: rs147816470
rs147816470
SURF1
1 1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 1.000 0.120 MT 8839 missense variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1556423632
rs1556423632
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 9191 missense variant T/C snv 0.700 1.000 1 2005 2005
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 1 1999 1999
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
2 0.925 0.160 MT 14484 missense variant T/C snv 0.700 1.000 1 2002 2002
dbSNP: rs199476107
rs199476107
CYTB ; ND5 ; ND6
2 0.925 0.200 MT 14453 missense variant G/A snv 0.700 1.000 1 2001 2001