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
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs201478192 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 12
rs9376092 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 10
rs12343867 0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8
rs121913614
MPL
0.790 0.120 1 43349308 missense variant G/A snv 7
rs750046020
MPL
0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 6
rs1057520016 0.851 0.080 9 5089726 missense variant C/A;T snv 5
rs12342421 0.851 0.080 9 5065750 intron variant G/C snv 0.23 5
rs146249964
MPL
0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 5
rs28928907
MPL
0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 4
rs562533120 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 3
rs10974947 0.882 0.080 9 5072846 intron variant G/A snv 0.23 3
rs10815148 0.882 0.080 9 5057284 intron variant T/A snv 0.33 3
rs318699 0.882 0.080 19 11390564 intron variant A/G snv 0.73 3
rs121913454 0.925 0.080 9 130874969 missense variant A/G snv 2
rs111340708 0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 2