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: rs199476104
rs199476104
CYTB ; ND5 ; ND6
2 0.925 0.160 MT 14484 missense variant T/C snv 0.810 1.000 7 1992 2001
dbSNP: rs199476118
rs199476118
ND1 ; ND2
3 0.925 0.160 MT 3460 missense variant G/A snv 0.810 1.000 7 1991 2012
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
1 1.000 0.160 MT 14482 missense variant C/A;G snv 0.810 1.000 6 1992 2002
dbSNP: rs199476112
rs199476112
ND4 ; ND5
2 0.925 0.160 MT 11778 missense variant G/A snv 0.810 1.000 6 1988 2011
dbSNP: rs199476119
rs199476119
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4160 missense variant T/C snv 0.800 1.000 6 1991 1992
dbSNP: rs41460449
rs41460449
ND1 ; ND2
1 1.000 0.160 MT 3394 missense variant T/C snv 0.800 1.000 6 1991 1992
dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
1 1.000 0.160 MT 14495 missense variant A/G snv 0.800 1.000 5 1992 2001
dbSNP: rs28616230
rs28616230
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4171 missense variant C/A;T snv 0.700 1.000 5 2002 2014
dbSNP: rs397515506
rs397515506
CYTB ; ND5 ; ND6
1 1.000 0.160 MT 14568 missense variant C/T snv 0.800 1.000 5 1992 2001
dbSNP: rs869025186
rs869025186
CYTB ; ND5 ; ND6
1 1.000 0.160 MT 14498 missense variant T/C snv 0.700 1.000 5 1992 2001
dbSNP: rs267606899
rs267606899
CYTB ; ND5
1 1.000 0.160 MT 12848 missense variant C/T snv 0.800 1.000 4 1991 2005
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
3 0.882 0.280 MT 13708 missense variant G/A snv 0.700 1.000 4 1991 2005
dbSNP: rs387906425
rs387906425
CYTB ; ND5 ; ND6
1 1.000 0.160 MT 13730 missense variant G/A snv 0.800 1.000 4 1991 2005
dbSNP: rs397515507
rs397515507
ND1 ; ND2
1 1.000 0.160 MT 3635 missense variant G/A snv 0.700 1.000 4 2001 2014
dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
2 1.000 0.160 MT 13051 missense variant G/A snv 0.700 1.000 2 2003 2016
dbSNP: rs1402000
rs1402000
PARL
1 1.000 0.160 3 183867753 intron variant T/A;C snv 0.020 1.000 2 2010 2010
dbSNP: rs1556423844
rs1556423844
ND3 ; ND4 ; ND4L ; ND5
1 1.000 0.160 MT 10663 missense variant T/C snv 0.700 1.000 2 1995 2002
dbSNP: rs199476115
rs199476115
COX1 ; ND2
1 1.000 0.160 MT 5244 missense variant G/A snv 0.800 1.000 2 1991 1992
dbSNP: rs267606898
rs267606898
CYTB ; ND5
4 0.851 0.240 MT 13042 missense variant G/A snv 0.700 1.000 2 2006 2008
dbSNP: rs28357980
rs28357980
COX1 ; ND2
1 1.000 0.160 MT 4917 missense variant A/G snv 0.700 1.000 2 1991 1992
dbSNP: rs28384199
rs28384199
ND4 ; ND5
3 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 1.000 2 2003 2003
dbSNP: rs3749446
rs3749446
PARL
1 1.000 0.160 3 183868217 intron variant C/T snv 0.70 0.020 1.000 2 2010 2010
dbSNP: rs1024205493
rs1024205493
WFS1
1 1.000 0.160 4 6301350 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1421865028
rs1421865028
TXNRD1
1 1.000 0.160 12 104319585 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs199476134
rs199476134
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.160 MT 9101 missense variant T/C snv 0.700 1.000 1 1995 1995