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: 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: rs121434456
rs121434456
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
1 1.000 0.120 MT 10438 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs121434462
rs121434462
ND4 ; ND5 ; TRNL2
2 0.925 0.200 MT 12315 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs199474661
rs199474661
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3252 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs207459999
rs207459999
CYTB ; ND6
2 0.925 0.160 MT 15242 stop gained G/A snv 0.700 0
dbSNP: rs387906731
rs387906731
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
1 1.000 0.120 MT 10450 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs387906736
rs387906736
COX1 ; ND2 ; TRNW
1 1.000 0.120 MT 5556 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs397514610
rs397514610
FARS2
4 0.851 0.120 6 5369001 missense variant A/G snv 0.700 0
dbSNP: rs397514615
rs397514615
MFF
3 0.882 0.120 2 227330777 stop gained C/T snv 0.700 0
dbSNP: rs398123061
rs398123061
FBXL4
3 0.882 0.120 6 98875673 missense variant G/A snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs587777593
rs587777593
TARS2
2 0.925 0.120 1 150496552 missense variant C/T snv 0.010 1.000 1 2016 2016