Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs1799998 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 14
rs5068 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 13
rs57045855 0.882 0.040 1 156134464 missense variant A/G;T snv 6
rs267607499
DES
0.851 0.160 2 219418809 missense variant A/G;T snv 4
rs1800730 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs2230345 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 6
rs1028728 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 3
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs397507549 0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs767312316 1.000 0.040 17 82375046 stop gained C/A;G;T snv 6.6E-05; 1.7E-05; 1.7E-05 1
rs2549513
MAF
0.851 0.080 16 79516830 downstream gene variant C/A;T snv 4
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs1800206 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 35
rs1799895 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 26
rs8179090 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 12
rs10501920 0.882 0.080 11 99622442 intron variant C/G snv 0.14 3
rs1303946678 0.925 0.040 22 42126851 missense variant C/G snv 3
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs911119 0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 9
rs2306235 0.827 0.040 1 150150942 missense variant C/G;T snv 1.1E-02; 1.6E-05 4.4E-03 6
rs397516089 0.827 0.080 14 23429807 missense variant C/G;T snv 6