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
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs738409 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1800471 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs4149056 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs368087026 0.637 0.520 21 45530890 missense variant G/A snv 33
rs696217 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 32
rs7493 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 24
rs61747728 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 20
rs137852832 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs34557412 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 15
rs137852834 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 13
rs121918079
TTR
0.790 0.280 18 31595143 missense variant T/C snv 10
rs188942711 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 9
rs7582694 0.763 0.400 2 191105394 intron variant C/G snv 0.77 9
rs886039813 0.827 0.160 X 13756600 frameshift variant C/- delins 8
rs771454167 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 6
rs12026 0.827 0.240 7 95411704 missense variant G/C snv 0.27 0.27 6
rs74315289 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 5