Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs10927887 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 3
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs1303946678 0.925 0.040 22 42126851 missense variant C/G snv 3
rs13058338 1.000 0.040 22 37236730 intron variant T/A;G snv 4
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
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
rs5068 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 13
rs5219 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 25
rs765545512
HFE
0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05 6
rs772608361 1.000 0.040 6 26087503 missense variant G/A;C snv 4.0E-06; 8.0E-06 2
rs7799039 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 33
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2306235 0.827 0.040 1 150150942 missense variant C/G;T snv 1.1E-02; 1.6E-05 4.4E-03 6
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1800888 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 23
rs8187710 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 6
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs4762
AGT
0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 35
rs6684209 1.000 0.040 1 115707991 intron variant C/T snv 0.17 2
rs1801252 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 17
rs243866 0.827 0.120 16 55477625 intron variant G/A snv 0.19 8