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: rs781720548
rs781720548
5 0.882 0.040 20 35652946 stop gained C/A snv 0.010 1.000 1 2017 2017
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
dbSNP: rs1249144069
rs1249144069
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.020 0.500 2 2015 2019
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1893490
rs1893490
2 1.000 0.040 18 50669431 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2514218
rs2514218
4 0.925 0.040 11 113522272 regulatory region variant C/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs3752088
rs3752088
2 1.000 0.040 18 50714891 intron variant C/A snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs3794899
rs3794899
2 1.000 0.040 18 50719733 intron variant C/T snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs3892158
rs3892158
2 1.000 0.040 18 50674143 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2015 2015
dbSNP: rs10994359
rs10994359
7 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 0.010 1.000 1 2014 2014
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: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs2239547
rs2239547
6 0.882 0.040 3 52821213 intron variant T/C snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs4765905
rs4765905
6 0.827 0.040 12 2240418 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs7759855
rs7759855
3 0.925 0.040 6 28315086 downstream gene variant A/G snv 2.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs12155594
rs12155594
2 1.000 0.040 8 31749079 intron variant C/T snv 7.8E-02 0.020 1.000 2 2013 2018
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.020 1.000 2 2013 2014
dbSNP: rs4281084
rs4281084
2 1.000 0.040 8 31637858 upstream gene variant G/A snv 0.22 0.020 1.000 2 2013 2018
dbSNP: rs1126442
rs1126442
2 1.000 0.040 9 137156924 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2013 2013
dbSNP: rs187269
rs187269
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2013 2013