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: rs199474662
rs199474662
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3251 non coding transcript exon variant A/G snv 0.700 1.000 2 1993 1996
dbSNP: rs199474663
rs199474663
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3260 non coding transcript exon variant A/G snv 0.700 1.000 2 1993 1994
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: 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: 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: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
4 0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 0.700 1.000 1 1995 1995
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 1 1991 1991
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
3 0.882 0.200 MT 8356 non coding transcript exon variant T/C snv 0.700 1.000 1 1992 1992
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 1996 1996
dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
4 0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 0.700 1.000 1 1995 1995
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: 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: 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: rs199474661
rs199474661
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3252 non coding transcript exon variant A/G snv 0.700 1.000 1 1993 1993
dbSNP: rs199474673
rs199474673
COX1 ; ND2 ; TRNW
2 1.000 0.200 MT 5521 non coding transcript exon variant G/A snv 0.700 1.000 1 1998 1998
dbSNP: rs199474817
rs199474817
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
3 0.882 0.200 MT 7512 non coding transcript exon variant T/C snv 0.700 1.000 1 1995 1995
dbSNP: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
3 0.882 0.320 MT 7445 stop lost A/C;G;T snv 0.700 1.000 1 1994 1994
dbSNP: rs199474821
rs199474821
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
2 0.925 0.280 MT 7511 non coding transcript exon variant T/C snv 0.700 1.000 1 1999 1999
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: rs199476113
rs199476113
ND4 ; ND4L ; ND5
1 1.000 0.200 MT 11084 missense variant A/G snv 0.700 1.000 1 1992 1992
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: rs201212638
rs201212638
ND1 ; ND2
1 1.000 0.200 MT 3398 missense variant T/C snv 0.700 1.000 1 1996 1996
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: 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: 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