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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.923 13 2006 2019
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.090 1.000 9 2011 2015
dbSNP: rs35753505
rs35753505
6 0.827 0.080 8 31616625 intergenic variant T/A;C snv 0.020 1.000 2 2010 2014
dbSNP: rs3803300
rs3803300
6 0.827 0.120 14 104803442 3 prime UTR variant T/A;C snv 0.020 1.000 2 2012 2020
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.020 1.000 2 2008 2009
dbSNP: rs1039002
rs1039002
5 0.851 0.080 6 165741969 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2076369
rs2076369
3 0.925 0.040 22 38067645 non coding transcript exon variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs2619539
rs2619539
3 0.925 0.040 6 15620624 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs2709722
rs2709722
2 1.000 0.040 7 20828189 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2007 2007
dbSNP: rs4765905
rs4765905
6 0.827 0.040 12 2240418 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs502434
rs502434
2 1.000 0.040 X 123403426 synonymous variant T/C snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs778293
rs778293
7 0.807 0.120 13 105516850 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs781720548
rs781720548
5 0.882 0.040 20 35652946 stop gained C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs989638
rs989638
3 0.925 0.040 X 123239256 intron variant C/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs9960767
rs9960767
3 0.925 0.040 18 55487771 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017