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: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.710 1.000 7 2000 2019
dbSNP: rs864309661
rs864309661
4 1.000 0.080 X 49077715 inframe deletion CCA/- delins 0.700 1.000 3 2012 2013
dbSNP: rs1057518443
rs1057518443
3 1.000 0.040 X 120557964 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1131692040
rs1131692040
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs122453114
rs122453114
2 1.000 0.120 X 153693586 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs132630298
rs132630298
2 1.000 0.200 X 134393556 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs398122394
rs398122394
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs398122917
rs398122917
5 0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 0.010 1.000 1 2012 2012
dbSNP: rs56268439
rs56268439
2 1.000 0.080 X 154030639 stop gained C/A;T snv 5.8E-06; 5.8E-06; 2.2E-03 0.010 1.000 1 2002 2002
dbSNP: rs61748389
rs61748389
2 1.000 0.080 X 154031430 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs61748421
rs61748421
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs61749738
rs61749738
2 1.000 0.080 X 154031145 missense variant G/C snv 7.4E-04 2.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs61752371
rs61752371
1 X 154030753 missense variant A/G snv 8.3E-05 4.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs62653623
rs62653623
5 0.851 0.240 X 18575383 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs72554644
rs72554644
2 1.000 0.160 X 78012885 stop gained G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs766475539
rs766475539
2 1.000 0.080 X 18588118 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs797046101
rs797046101
5 0.851 0.280 X 49076469 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs868950793
rs868950793
1 X 153688666 missense variant C/A;G;T snv 1.6E-05; 3.3E-05 3.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs1057518921
rs1057518921
7 1.000 X 71132465 missense variant G/A snv 0.700 0
dbSNP: rs1057518963
rs1057518963
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1057519440
rs1057519440
3 1.000 0.040 X 51744647 missense variant G/A snv 0.700 0
dbSNP: rs1064793575
rs1064793575
6 0.925 0.040 X 136016706 frameshift variant GT/- delins 0.700 0
dbSNP: rs1131692230
rs1131692230
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
dbSNP: rs121434616
rs121434616
6 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0