Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs112735431 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 24
rs11556924 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 21
rs1378942
CSK
0.790 0.240 15 74785026 intron variant C/A;T snv 16
rs1535045 0.742 0.360 20 46119460 intron variant C/A;G;T snv 12
rs17465637 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 11
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs1862513 0.763 0.360 19 7668907 upstream gene variant C/G;T snv 11
rs1878406 0.807 0.200 4 147472512 intergenic variant C/A;G;T snv 7
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs3939286 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 12
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs549858786 0.790 0.320 2 112836807 5 prime UTR variant T/A snv 10
rs569033466 0.882 0.160 16 56961929 5 prime UTR variant G/A;C;T snv 4.8E-05; 2.4E-05 6
rs599839 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 27
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs63750953
HBB
0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 10
rs563558831 0.776 0.320 19 40991226 upstream gene variant T/C snv 7.0E-06 11
rs549591993
F7
0.776 0.400 13 113105794 5 prime UTR variant C/A snv 4.0E-04 2.8E-05 12
rs587745372 0.851 0.240 1 147773383 upstream gene variant T/A snv 2.8E-05 7
rs72661131 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 15
rs17231520 0.851 0.240 16 56961915 upstream gene variant G/A snv 2.1E-02 9