Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs1553263326 1.000 1 156881446 intron variant G/A snv 2
rs387907329 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs113001196 0.882 0.160 15 48432947 stop gained G/A snv 5
rs137852863 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs137853229 0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 5
rs587783685 0.925 0.120 12 49032113 stop gained G/A snv 5
rs116128702 1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs121909283 0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04 4
rs1247427997 1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs137852217 0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs137853063 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 4
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs1553249737 1.000 1 165743263 stop gained G/T snv 4
rs1554698878 0.925 9 83971976 stop gained G/A snv 4
rs1557082399 1.000 X 77593803 stop gained C/T snv 4
rs797044883 0.882 0.160 15 23645831 stop gained G/A snv 4
rs864321692
WAC
0.925 10 28583498 stop gained C/A snv 4
rs121908171 0.925 0.080 6 57194817 stop gained A/T snv 2.8E-04 3.6E-04 3
rs1313319892 1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
rs1554062562 1.000 5 14359442 stop gained C/T snv 3
rs1554117456 1.000 5 37245569 stop gained C/A snv 3
rs1554139771 5 88804732 stop gained CA/- delins 3