Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs696217 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 32
rs146292819 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 9
rs9282541 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 13
rs2230806 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 24
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs599839 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 27
rs1805097 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 22
rs688 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 16
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs964184 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 47
rs3135506 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 26
rs662799 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs11536889 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 27
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs5065 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 12
rs1169288 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 21