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: rs797045055
rs797045055
ND6
2 1.000 0.071 MT 14597 missense variant snp 0.700 2 2013 2017
dbSNP: rs1057518813
rs1057518813
8 0.801 0.143 13 102873308 frameshift variant TCT/T in-del 0.700 1 2015 2015
dbSNP: rs1057518936
rs1057518936
3 0.923 0.107 19 7541025 missense variant C/G snp 0.700 1 2015 2015
dbSNP: rs1060503428
rs1060503428
10 0.821 0.107 16 89546662 inframe deletion AGGCGGGAGA/A in-del 0.700 1 2015 2015
dbSNP: rs61755320
rs61755320
10 0.784 0.357 16 89546737 missense variant C/T snp 2.9E-03 2.7E-03 0.700 1 2015 2015
dbSNP: rs730882198
rs730882198
6 0.923 0.107 13 36314259 frameshift variant G/GT in-del 1.2E-05 3.2E-05 0.700 1 2015 2015
dbSNP: rs768823392
rs768823392
10 0.821 0.107 16 89546657 splice acceptor variant AGGAGAGGCG/A in-del 4.0E-06; 2.6E-04 4.1E-04 0.700 1 2015 2015
dbSNP: rs781934508
rs781934508
4 1.000 0.071 9 133352441 splice region variant C/A,T snp 2.4E-05 3.2E-05 0.700 1 2015 2015
dbSNP: rs782316919
rs782316919
9 0.821 0.143 9 133351970 frameshift variant CAG/C in-del 0.700 1 2015 2015
dbSNP: rs1057518779
rs1057518779
5 1.000 0.071 19 13371745 missense variant G/A snp 0.700 0
dbSNP: rs104894107
rs104894107
FXN
9 0.821 0.179 9 69064942 missense variant G/C,T snp 3.6E-05; 2.8E-05 3.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs142157346
rs142157346
FXN
7 0.821 0.179 9 69053240 missense variant G/T snp 0.010 1.000 1 1999 1999
dbSNP: rs28933385
rs28933385
18 0.707 0.286 20 4699818 missense variant G/A snp 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs374263073
rs374263073
3 0.923 0.107 1 183222116 missense variant G/A,T snp 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs63750009
rs63750009
6 0.821 0.143 14 73192760 missense variant A/G snp 0.010 1.000 1 2010 2010
dbSNP: rs63751243
rs63751243
GRN
5 0.846 0.143 17 44349190 missense variant C/A,T snp 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs74315403
rs74315403
11 0.756 0.214 20 4699752 missense variant G/A snp 0.010 1.000 1 2009 2009
dbSNP: rs760213167
rs760213167
3 0.923 0.107 12 54182244 missense variant C/T snp 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs771744744
rs771744744
3 0.923 0.107 12 54182241 missense variant C/T snp 8.0E-06 0.010 1.000 1 2010 2010