Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6330 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 12
rs2266780 0.827 0.280 1 171114102 missense variant A/G snv 0.15 0.14 9
rs4845625 0.851 0.080 1 154449591 intron variant T/C snv 0.60 9
rs880315 0.925 0.120 1 10736809 intron variant T/C snv 0.32 9
rs67608943 0.851 0.080 1 55046549 stop gained C/G;T snv 1.9E-04 8
rs9333025 0.851 0.200 1 46931231 intron variant C/T snv 9.4E-02 8
rs1255283120 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 7
rs2266782 0.851 0.200 1 171107825 missense variant G/A snv 0.37 0.41 7
rs587745372 0.851 0.240 1 147773383 upstream gene variant T/A snv 2.8E-05 7
rs3783613 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 6
rs4846914 0.925 0.080 1 230159944 intron variant G/A snv 0.45 6
rs750046020
MPL
0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 6
rs17114036 0.851 0.120 1 56497149 intron variant A/G snv 0.11 5
rs3093075 0.882 0.120 1 159710123 upstream gene variant G/T snv 0.13 5
rs371237692
REN
0.925 0.120 1 204159515 synonymous variant A/G snv 8.0E-06 3.5E-05 5
rs12130333 1.000 0.080 1 62726106 regulatory region variant C/T snv 0.16 4
rs161810 0.925 0.120 1 7940737 intron variant T/C snv 0.13 4
rs1052053 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 3
rs1324214
F3
0.925 0.120 1 94531732 intron variant G/A snv 0.21 3
rs12037987 1 112500200 intron variant T/C snv 8.6E-02 2
rs12122341 1.000 0.080 1 115113069 regulatory region variant C/G snv 0.19 2
rs147270785 1.000 0.080 1 11046616 missense variant G/A snv 6.5E-04 6.4E-04 2
rs2271347 1.000 0.080 1 226361797 non coding transcript exon variant G/A snv 0.16 2
rs11240065 1 147468451 intron variant T/C snv 1
rs148158062 1 147468451 intron variant -/GTTCCTTC delins 1