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: rs104894630
rs104894630
SCO1
4 0.882 0.120 17 10692805 missense variant G/A snv 0.800 1.000 4 2000 2009
dbSNP: rs104894555
rs104894555
COX10
1 1.000 0.080 17 14102205 missense variant C/A snv 0.800 1.000 3 2000 2016
dbSNP: rs104894556
rs104894556
COX10
2 1.000 0.080 17 14159926 missense variant C/G;T snv 1.2E-05 0.800 1.000 3 2000 2016
dbSNP: rs104894557
rs104894557
COX10
2 0.925 0.120 17 14206888 missense variant A/G;T snv 8.0E-05 0.800 1.000 3 2000 2016
dbSNP: rs104894560
rs104894560
COX10
1 1.000 0.080 17 14102230 missense variant C/A snv 4.0E-06 0.800 1.000 3 2000 2016
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
3 1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 0.800 1.000 3 2013 2018
dbSNP: rs121909602
rs121909602
COX6B1
1 1.000 0.080 19 35651302 missense variant G/A snv 1.6E-05 0.800 1.000 1 2008 2008
dbSNP: rs199474827
rs199474827
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7671 missense variant T/A snv 0.800 1.000 1 1999 1999
dbSNP: rs587777220
rs587777220
SCO1
4 0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06 0.710 1.000 1 2013 2013
dbSNP: rs773079584
rs773079584
COX10
1 1.000 0.080 17 14207140 missense variant C/G;T snv 4.0E-06; 4.0E-06; 1.6E-05 0.700 1.000 3 2000 2016
dbSNP: rs267606883
rs267606883
COX1 ; COX2
2 0.925 0.080 MT 6328 missense variant C/T snv 0.700 1.000 2 2002 2006
dbSNP: rs587776513
rs587776513
TACO1
1 1.000 0.080 17 63606395 frameshift variant -/C delins 0.700 1.000 1 2009 2009
dbSNP: rs587779779
rs587779779
XAB2 ; PCP2 ; PET100
2 0.925 0.080 19 7631476 stop gained C/T snv 7.3E-06 0.700 1.000 1 2015 2015
dbSNP: rs118203917
rs118203917
FASTKD2
1 1.000 0.080 2 206774264 stop gained C/T snv 0.700 0
dbSNP: rs139877390
rs139877390
COA3 ; CNTD1
1 1.000 0.080 17 42798167 missense variant T/C snv 1.7E-04; 4.0E-06 1.2E-04 0.700 0
dbSNP: rs1556423388
rs1556423388
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1 1.000 0.080 MT 8087 frameshift variant T/- delins 0.700 0
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs199474825
rs199474825
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7587 start lost T/C snv 0.700 0
dbSNP: rs199474828
rs199474828
ATP6 ; ATP8 ; COX2 ; COX3
1 1.000 0.080 MT 8042 frameshift variant TA/- delins 0.700 0
dbSNP: rs199474829
rs199474829
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7896 stop gained G/A snv 0.700 0
dbSNP: rs199476132
rs199476132
COX1 ; COX2 ; ND2 ; TRNN
3 0.925 0.200 MT 5728 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs267606612
rs267606612
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 1.000 0.080 MT 9480 inframe deletion TCGCAGGATTTTTCT/- delins 0.700 0
dbSNP: rs267606613
rs267606613
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9952 stop gained G/A snv 0.700 0
dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 9531 frameshift variant -/C delins 0.700 0
dbSNP: rs267606615
rs267606615
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.080 MT 9379 stop gained G/A snv 0.700 0