Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs3731249 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs121912654 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 21
rs121913409 0.708 0.400 3 41224646 missense variant C/A;G;T snv 21
rs121913348 0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs8192284 0.724 0.720 1 154454494 missense variant A/C;T snv 19
rs28931588 0.701 0.200 3 41224606 missense variant G/A;C;T snv 17
rs28931589 0.695 0.240 3 41224613 missense variant G/A;C;T snv 17
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs2234663 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 14
rs2536512 0.752 0.280 4 24799693 missense variant G/A;T snv 0.55 14
rs387906659 0.742 0.280 19 40257052 stop gained C/A;T snv 14
rs397514606 0.763 0.320 1 243695714 missense variant C/T snv 14
rs121913396 0.732 0.200 3 41224607 missense variant A/C;G;T snv 13
rs16891982 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 13
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 13
rs771138120 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 13
rs104894094 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 12
rs121913357 0.742 0.320 7 140781603 stop gained C/A;G;T snv 12