Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6465657 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 7
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs1982151 0.807 0.120 9 84002350 missense variant A/G;T snv 0.73 9
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs12418451 0.882 0.080 11 69167951 intron variant G/A snv 0.22 3
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1138272 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
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
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs34301344 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26 7
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78