Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9034 0.827 0.200 7 106249610 3 prime UTR variant A/G;T snv 5
rs61330082 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 13
rs1805329 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 15
rs1326656542 0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06 10
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs1484761909 0.882 0.120 1 109688224 missense variant A/G snv 3.0E-05 3.8E-05 3
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs62185668 0.925 0.120 20 10981287 intron variant C/A snv 0.19 3
rs6104690 0.925 0.120 20 11007451 intron variant G/A;T snv 2
rs197414 0.882 0.120 1 111766501 missense variant C/A;T snv 0.12; 4.0E-06 3
rs1883965 0.807 0.160 1 11262099 intron variant A/G snv 0.63 8
rs2295080 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs3807987 0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02 17
rs7804372 0.716 0.320 7 116554174 intron variant T/A snv 0.27 19
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1476413 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs140241283 0.882 0.120 1 11796249 start lost A/G;T snv 4.0E-06; 4.0E-06 3
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
rs1428779969
PXN
0.882 0.120 12 120223776 missense variant G/A snv 7.0E-06 3
rs4758680 0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs7977932 0.763 0.320 12 122172836 intron variant C/G;T snv 10
rs10743980 0.882 0.120 12 12259861 intron variant T/A;C;G snv 4
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131