Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 29
rs104894231 0.776 0.360 11 533467 missense variant C/G;T snv 9
rs121917759 0.790 0.480 11 533466 missense variant G/A snv 8
rs121917757 0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05 4
rs121917758 0.851 0.160 11 533883 missense variant G/A snv 4
rs730880460 0.882 0.120 11 533877 missense variant C/A;T snv 3
rs754945616 0.882 0.120 5 87268639 missense variant G/T snv 4.2E-06 3
rs121917756 0.925 0.120 11 533869 missense variant C/T snv 2
rs727503093 0.925 0.160 11 533881 missense variant C/T snv 2
rs770859592 1.000 0.080 9 21974599 missense variant C/T snv 1.6E-05 1.4E-05 1
rs773459232 1.000 0.080 9 21994286 missense variant C/T snv 7.0E-06 1
rs367634266
ELN
1.000 0.080 7 74028222 missense variant G/A;T snv 4.1E-06; 4.6E-05 1.2E-04 1
rs104894227 1.000 0.080 11 533553 missense variant T/C snv 1
rs398122808 1.000 0.080 11 534210 coding sequence variant -/CTC delins 1
rs398122809 1.000 0.080 11 534212 inframe insertion -/TCT delins 1
rs35613389 1.000 0.080 11 533309 frameshift variant G/-;GG delins 1
rs587777239 1.000 0.080 11 533848 inframe insertion -/GTCCCGCATGGCGCTGTACTC delins 1
rs727504747 1.000 0.080 11 533880 missense variant GC/AG mnv 1
rs774248606 1.000 0.080 5 87268482 missense variant G/A snv 6.3E-06 1