Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121913396 0.732 0.200 3 41224607 missense variant A/C;G;T snv 13
rs12418451 0.882 0.080 11 69167951 intron variant G/A snv 0.22 3
rs12621278 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 7
rs1512268 0.851 0.160 8 23668950 intergenic variant T/C snv 0.50 6
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs16901979 0.724 0.480 8 127112671 intron variant C/A snv 0.16 17
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
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
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
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20