Source: CURATED ×
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: rs199476109
rs199476109
CYTB ; ND5 ; ND6
3 0.882 0.120 MT 14487 missense variant T/C snv 0.800 1.000 4 2003 2005
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 10158 missense variant T/C snv 0.700 1.000 4 2003 2005
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
2 0.882 0.200 MT 3946 missense variant G/A snv 0.700 1.000 4 2004 2011
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 8851 missense variant T/C snv 0.700 1.000 4 1995 2013
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: 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: 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: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
3 0.882 0.200 MT 10197 missense variant G/A snv 0.800 1.000 2 2007 2009
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: rs28939711
rs28939711
COX15 ; CUTC
3 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.710 1.000 2 2004 2016
dbSNP: rs397514662
rs397514662
COX15 ; CUTC
2 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.710 1.000 2 2004 2016
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
10 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: 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: 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: 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
dbSNP: rs199476118
rs199476118
ND1 ; ND2
3 0.925 0.160 MT 3460 missense variant G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs587776433
rs587776433
ND1 ; ND2
2 0.925 0.200 MT 3481 missense variant G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs587776434
rs587776434
ND1 ; ND2
1 1.000 0.120 MT 3890 missense variant G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs587776437
rs587776437
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 9478 missense variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs587776438
rs587776438
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 10254 missense variant G/A snv 0.700 1.000 1 2010 2010