Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs4420638 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 43
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs1378942
CSK
0.790 0.240 15 74785026 intron variant C/A;T snv 16
rs1256049 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 32
rs367732974
F7
0.790 0.360 13 113105788 5 prime UTR variant G/A snv 8.9E-05 2.8E-05 9
rs549591993
F7
0.776 0.400 13 113105794 5 prime UTR variant C/A snv 4.0E-04 2.8E-05 12
rs6314 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 23
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs2229113 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 10
rs2237892 0.790 0.320 11 2818521 intron variant C/T snv 9.2E-02 16
rs281864525
HBB
0.851 0.280 11 5227097 5 prime UTR variant T/A;G snv 7.0E-06 4
rs34166473
HBD
0.827 0.320 11 5234513 5 prime UTR variant A/G snv 7.0E-06 6
rs63750953
HBB
0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 10
rs562962093 0.742 0.520 10 52771740 upstream gene variant T/C snv 7.0E-06 13
rs72661131 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 15
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs7044343 0.752 0.520 9 6254208 intron variant C/T snv 0.51 13
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246