Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs25531 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs1553621496 0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1560755661 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs3087243 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
rs1559931177 0.827 0.120 3 49047207 stop gained G/A snv 34
rs1331463984 0.701 0.240 16 2176350 missense variant G/A snv 33
rs151344517 0.742 0.320 18 12337505 missense variant C/T snv 31
rs4570625 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 25
rs864321670 0.763 0.320 10 95633012 missense variant C/T snv 24
rs3091244
CRP
0.724 0.280 1 159714875 upstream gene variant G/A;T snv 17
rs2794521
CRP
0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 15
rs1057523354 0.763 0.480 13 110179387 missense variant C/A snv 13
rs4129267 0.807 0.200 1 154453788 intron variant C/G;T snv 13
rs1289543302 0.763 0.440 7 87536472 missense variant C/T snv 12
rs4251961 0.763 0.200 2 113116890 intron variant T/C snv 0.29 10
rs1212171 0.851 0.120 9 84667612 upstream gene variant C/T snv 0.50 8
rs4646437 0.827 0.200 7 99767460 intron variant G/A snv 0.30 8
rs869312697 0.882 0.400 6 157207241 stop gained C/T snv 8
rs2295633 0.827 0.120 1 46408711 intron variant A/G;T snv 7
rs1082214
MIP
0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 6