Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1006737 0.695 0.120 12 2236129 intron variant G/A snv 0.36 27
rs1039002 0.851 0.080 6 165741969 intron variant G/A;T snv 5
rs104894685
FTL
0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 4
rs1049353 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 42
rs10494561 1.000 0.040 1 183277955 intron variant C/T snv 9.4E-02 3
rs10503929 0.925 0.040 8 32756465 missense variant T/C snv 0.13 0.13 3
rs1076560 0.776 0.120 11 113412966 intron variant C/A snv 0.16 11
rs10994359 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 7
rs1126442 1.000 0.040 9 137156924 missense variant G/A snv 0.26 0.24 2
rs1130214 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 12
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1200746244 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 11
rs12155594 1.000 0.040 8 31749079 intron variant C/T snv 7.8E-02 2
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1249144069 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 5
rs12807809 0.882 0.160 11 124736389 upstream gene variant T/C snv 0.20 4
rs12836771 0.882 0.080 X 114650913 intron variant A/G snv 0.12 4
rs12966547 0.827 0.040 18 55084786 intergenic variant G/A snv 0.39 7
rs1341402 1.000 0.040 13 105463160 intron variant T/C snv 0.16 2
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 21
rs135745 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 13
rs1421292 0.925 0.040 13 105545886 intergenic variant T/A snv 0.39 3
rs143396368
FXN
0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 7
rs1535255 0.807 0.120 6 88151489 intron variant T/G snv 0.21 8
rs16147 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 18