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: rs1553249704
rs1553249704
NDUFS2
1 1.000 0.160 1 161206472 missense variant G/A snv 0.700 0
dbSNP: rs1599988
rs1599988
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4216 missense variant T/C snv 0.700 0
dbSNP: rs193302933
rs193302933
ND3 ; ND4 ; ND4L ; ND5
1 1.000 0.160 MT 10664 synonymous variant C/T snv 0.700 0
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
4 0.851 0.200 MT 14459 missense variant G/A snv 0.700 0
dbSNP: rs199476122
rs199476122
ND1 ; ND2
3 0.882 0.280 MT 3697 missense variant G/A snv 0.700 0
dbSNP: rs199476125
rs199476125
ND1 ; ND2
1 1.000 0.160 MT 3733 missense variant G/A snv 0.700 0
dbSNP: rs199974018
rs199974018
CYTB ; ND5
1 1.000 0.160 MT 12811 missense variant T/C snv 0.700 0
dbSNP: rs200336777
rs200336777
CYTB ; ND6
1 1.000 0.160 MT 15812 missense variant G/A snv 0.700 0
dbSNP: rs200613617
rs200613617
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.160 MT 9804 missense variant G/A snv 0.800 0
dbSNP: rs267606611
rs267606611
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.160 MT 9438 missense variant G/A snv 0.700 0
dbSNP: rs267606895
rs267606895
CYTB ; ND5
3 0.882 0.240 MT 13045 missense variant A/C snv 0.700 0
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
2 0.925 0.200 MT 14596 missense variant A/T snv 0.700 0
dbSNP: rs397515508
rs397515508
ND1 ; ND2
4 0.925 0.160 MT 3700 missense variant G/A snv 0.700 0
dbSNP: rs397515612
rs397515612
ND1 ; ND2
1 1.000 0.160 MT 3376 missense variant G/A snv 0.700 0
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: rs199476115
rs199476115
COX1 ; ND2
1 1.000 0.160 MT 5244 missense variant G/A snv 0.800 1.000 2 1991 1992
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: rs41518645
rs41518645
CYTB ; ND6
3 0.925 0.200 MT 15257 missense variant G/A snv 0.700 1.000 1 1992 1992
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
dbSNP: rs1447956961
rs1447956961
GLIS3
1 1.000 0.160 9 4286272 missense variant C/T snv 4.0E-06 0.010 1.000 1 1998 1998
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: 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: 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