Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs187238 0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs1946518 0.602 0.760 11 112164735 intron variant T/G snv 0.60 46
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs1143623 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 29
rs3783521 0.807 0.200 2 112786000 upstream gene variant G/A snv 0.26 8