Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1429181351 0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs1553479405 1.000 2 120989603 frameshift variant C/- del 3
rs1554121353 6 33438527 frameshift variant A/- del 2
rs1554599036 1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554728529 1.000 9 136508989 frameshift variant A/- del 3
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs747661902 1.000 16 578404 frameshift variant TG/- del 2.8E-05 2.1E-05 3
rs1462161137 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 3
rs1553212626 1.000 1 151406151 frameshift variant -/A delins 3
rs1553212978 1.000 1 151406322 frameshift variant -/T delins 3
rs1553353206 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 3
rs1553521389 1.000 2 224503679 frameshift variant AG/- delins 3
rs1554139771 5 88804732 stop gained CA/- delins 3
rs1555377234 1.000 14 77025641 frameshift variant A/- delins 3
rs1555392032 1.000 15 38339805 frameshift variant -/A delins 3
rs1555528558 1.000 16 89283207 frameshift variant -/T delins 3
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins 3
rs1555537637 1.000 17 4533107 frameshift variant CC/T delins 3
rs1555902810 1.000 22 35781685 frameshift variant -/A delins 4
rs1556779417 1.000 X 47181541 frameshift variant GT/- delins 3
rs1557099144 1.000 X 53985131 frameshift variant -/C delins 3
rs746765465 1.000 17 40089359 frameshift variant C/- delins 3
rs766667249 1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04 3
rs777218310 0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 4
rs782297546 0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5