Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs140226130 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 8
rs121918080
TTR
0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 6
rs73956431 0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02 6
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs1136201 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs8179090 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 12
rs9303504 0.925 0.040 17 66319248 intron variant G/C snv 0.59 2
rs9909004 0.925 0.040 17 66310015 intron variant C/T snv 0.59 2
rs767312316 1.000 0.040 17 82375046 stop gained C/A;G;T snv 6.6E-05; 1.7E-05; 1.7E-05 1
rs243866 0.827 0.120 16 55477625 intron variant G/A snv 0.19 8
rs2549513
MAF
0.851 0.080 16 79516830 downstream gene variant C/A;T snv 4
rs243864 0.925 0.080 16 55478410 intron variant T/G snv 0.19 3
rs17859821 1.000 0.040 16 55478141 intron variant G/A;C snv 0.11 2
rs1320702652 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 11
rs28714259 0.882 0.120 15 23463380 intergenic variant G/A snv 0.19 5
rs2073440
HDC
0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02 4
rs17740607
HDC
0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 2
rs397516089 0.827 0.080 14 23429807 missense variant C/G;T snv 6
rs3212247 0.925 0.040 14 24340589 upstream gene variant A/G snv 0.12 2
rs3212254 0.925 0.040 14 24336257 missense variant G/A;T snv 1.2E-05; 7.3E-02 2
rs762151808 0.925 0.040 14 94378559 missense variant A/C snv 4.0E-06 7.0E-06 2
rs1028728 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 3
rs3829365 0.925 0.040 13 37598759 5 prime UTR variant G/A;C snv 4.0E-06; 0.11 3
rs958546 0.882 0.040 13 46259582 intron variant G/C snv 0.29 3