Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26 7
rs2242652 0.724 0.400 5 1279913 intron variant G/A snv 0.18 16
rs34301344 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs5759167 0.851 0.160 22 43104206 TF binding site variant G/T snv 0.40 4
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1512268 0.851 0.160 8 23668950 intergenic variant T/C snv 0.50 6
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306