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
rs5186 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs1057519915 0.851 0.160 1 11109318 missense variant A/C snv 5
rs4662750 1.000 0.120 2 127634972 non coding transcript exon variant A/C snv 0.69 1
rs6470588 1.000 0.120 8 127877125 intron variant A/C snv 0.53 1
rs1057520001 0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs1057520002 0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 7
rs7859384 0.882 0.120 9 79507370 intron variant A/C;G snv 6
rs6937133 0.925 0.120 6 39832238 intron variant A/C;G snv 2
rs11637556 1.000 0.120 15 66436613 intron variant A/C;G snv 1
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs530941076 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 21
rs967461896 0.724 0.240 17 7675086 missense variant A/C;G;T snv 17
rs876660333 0.742 0.360 17 7673805 missense variant A/C;G;T snv 13
rs1057519978 0.763 0.360 17 7675191 missense variant A/C;G;T snv 12
rs132793 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 7
rs869025621
VHL
0.882 0.240 3 10142079 missense variant A/C;G;T snv 4
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs17855750 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 21
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105