Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1058808 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs3798577 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 16
rs11568818 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24 15
rs1927914 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 14
rs3829078
CA9
0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02 6
rs61552325 0.882 0.080 17 39727784 missense variant C/G snv 5
rs772893086 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 4
rs1646724 0.925 0.080 7 134317123 upstream gene variant T/A;G snv 3