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: 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 2001 2001
dbSNP: rs199476107
rs199476107
CYTB ; ND5 ; ND6
2 0.925 0.200 MT 14453 missense variant G/A snv 0.800 1.000 1 2001 2001
dbSNP: rs121434468
rs121434468
COX1 ; ND1 ; ND2 ; TRNI
2 0.925 0.200 MT 4284 non coding transcript exon variant G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
2 0.925 0.200 MT 12147 non coding transcript exon variant G/A snv 0.700 1.000 2 2004 2004
dbSNP: rs376079231
rs376079231
KIDINS220
2 0.925 0.320 2 8750283 synonymous variant C/T snv 8.1E-06 3.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs748735395
rs748735395
RERE
1 1.000 0.200 1 8360264 synonymous variant C/A;G;T snv 2.3E-05; 5.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs199474666
rs199474666
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3274 non coding transcript exon variant A/G snv 0.700 1.000 2 2001 2006
dbSNP: rs267606894
rs267606894
CYTB ; ND5
1 1.000 0.200 MT 12770 missense variant A/G snv 0.800 1.000 4 1997 2007
dbSNP: rs267606895
rs267606895
CYTB ; ND5
3 0.882 0.240 MT 13045 missense variant A/C snv 0.800 1.000 4 1997 2007
dbSNP: rs267606897
rs267606897
CYTB ; ND5
4 0.882 0.200 MT 13513 missense variant G/A snv 0.800 1.000 4 1997 2007
dbSNP: rs267606898
rs267606898
CYTB ; ND5
4 0.851 0.240 MT 13042 missense variant G/A snv 0.800 1.000 4 1997 2007
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs387906734
rs387906734
TRNF
2 0.925 0.200 MT 586 non coding transcript exon variant G/A snv 0.700 1.000 2 2003 2008
dbSNP: rs1422329310
rs1422329310
PLCE1
2 0.925 0.280 10 94265844 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121434462
rs121434462
ND4 ; ND5 ; TRNL2
2 0.925 0.200 MT 12315 non coding transcript exon variant G/A snv 0.700 1.000 5 1996 2009
dbSNP: rs118203885
rs118203885
TRNF
1 1.000 0.200 MT 583 non coding transcript exon variant G/A snv 0.700 1.000 3 1998 2009
dbSNP: rs587776433
rs587776433
ND1 ; ND2
2 0.925 0.200 MT 3481 missense variant G/A snv 0.700 1.000 3 2007 2009
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
2 1.000 0.200 MT 5591 non coding transcript exon variant G/A snv 0.700 1.000 2 2006 2009
dbSNP: rs199474701
rs199474701
CYTB ; ND6 ; TRNP
3 0.925 0.200 MT 15967 non coding transcript exon variant G/A snv 0.700 1.000 2 2009 2009
dbSNP: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
3 0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs387906419
rs387906419
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
2 0.925 0.200 MT 7497 non coding transcript exon variant G/A snv 0.700 1.000 4 1998 2010
dbSNP: rs199476143
rs199476143
ND1 ; TRNV
2 0.925 0.200 MT 1606 non coding transcript exon variant G/A snv 0.700 1.000 3 1998 2010
dbSNP: rs387906420
rs387906420
TRNF
2 0.925 0.200 MT 616 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs193303018
rs193303018
ND1 ; ND2 ; TRNL1
2 1.000 0.200 MT 3242 non coding transcript exon variant G/A snv 0.700 1.000 3 2005 2012
dbSNP: rs776254971
rs776254971
NDUFS7
2 0.925 0.240 19 1388873 missense variant A/G snv 4.2E-06 0.010 1.000 1 2012 2012