Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs7799039 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 33
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 21
rs1555939456 0.851 0.200 X 20187956 missense variant T/C snv 21
rs3730358 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 14
rs6994992 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 13
rs1800955 0.827 0.160 11 636784 upstream gene variant T/C;G snv 8
rs143396368
FXN
0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 7
rs518147 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 7
rs778293 0.807 0.120 13 105516850 intergenic variant C/A;T snv 7
rs35753505 0.827 0.080 8 31616625 intergenic variant T/A;C snv 6
rs3803300 0.827 0.120 14 104803442 3 prime UTR variant T/A;C snv 6
rs4765905 0.827 0.040 12 2240418 intron variant G/A;C snv 6
rs1039002 0.851 0.080 6 165741969 intron variant G/A;T snv 5
rs11789399 0.882 0.040 9 118597008 intergenic variant G/A;C snv 5
rs1555910162 0.925 0.080 22 50721469 frameshift variant -/C delins 5
rs17693963 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 5
rs781720548 0.882 0.040 20 35652946 stop gained C/A snv 5
rs2054399 0.925 0.040 3 178623794 intron variant G/A;C snv 4
rs2076369 0.925 0.040 22 38067645 non coding transcript exon variant T/A;G snv 3
rs2619539 0.925 0.040 6 15620624 intron variant C/A;G snv 3
rs989638 0.925 0.040 X 123239256 intron variant C/G;T snv 3