Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1469713 0.827 0.160 19 19417997 intron variant A/G snv 0.44 7
rs200182588 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs5013329 0.827 0.160 1 46349419 intron variant C/T snv 0.23 6
rs757210 0.807 0.160 17 37736525 intron variant C/G;T snv 6
rs8037137 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 8
rs9375701 0.827 0.160 6 130062912 intron variant C/T snv 0.53 6
rs7937840 0.807 0.200 11 62126500 intron variant C/T snv 0.20 7
rs138213197 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
rs1799950 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 13
rs2660753 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 9
rs80357796 0.752 0.240 17 43094464 frameshift variant T/- del 11
rs1136201 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs121913286 0.677 0.280 3 179218306 missense variant C/A;G snv 23
rs137853011 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs28897672 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs80358721 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 14
rs11571833 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 18
rs2240308 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38