Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26 7
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2242652 0.724 0.400 5 1279913 intron variant G/A snv 0.18 16
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs34301344 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5759167 0.851 0.160 22 43104206 TF binding site variant G/T snv 0.40 4
rs6465657 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 7
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213