Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
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
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs3775291 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs187238 0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs2066845 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 46
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs1800925 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs28934571 0.645 0.360 17 7674216 missense variant C/A;G snv 31
rs2230926 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs3775290 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 15
rs9275572 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 15
rs10774671 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 14
rs2233678 0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 14
rs13347 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 12