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
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs768827923 0.851 0.080 1 9721816 missense variant T/G snv 6
rs4915076 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 3
rs4649295 0.925 0.080 1 233280792 intron variant T/C snv 0.60 2
rs966423 0.776 0.200 2 217445617 intron variant C/G;T snv 11
rs732609
TPO
0.827 0.160 2 1496155 missense variant A/C;G snv 0.43 5
rs12990503 0.925 0.080 2 217429494 intron variant C/G snv 0.64 2
rs2048722
TPO
0.925 2 1492028 intron variant A/G snv 0.51 2
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs371428527 0.925 3 138737869 missense variant T/C;G snv 1.2E-05 1.4E-05 2
rs9858271 0.925 0.080 3 59559604 intron variant G/A snv 0.80 2
rs17739370 0.925 4 177374275 intergenic variant C/T snv 0.38 2
rs1874564 0.925 0.080 4 76936952 intergenic variant G/A snv 0.58 2
rs7689099 0.925 4 177335759 missense variant C/A;G;T snv 4.2E-06; 0.11; 1.7E-05 2
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs2230641 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 8
rs2070593 0.827 0.120 5 151028379 3 prime UTR variant G/A;T snv 0.20 6
rs3828599 0.882 0.040 5 151022235 intron variant A/G snv 0.67 5
rs8177412 0.851 0.160 5 151020526 5 prime UTR variant T/C snv 0.15 5
rs3805435 0.882 0.120 5 151021735 non coding transcript exon variant T/C snv 8.4E-02 3
rs13184587 0.925 5 78910960 intron variant G/A;T snv 2
rs4946936 0.790 0.160 6 108682118 3 prime UTR variant T/A;C snv 8