Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs383830 0.882 0.040 5 100613278 intergenic variant A/T snv 0.76 3
rs763802417 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 5
rs2227631 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 13
rs1799889 0.649 0.600 7 101126430 upstream gene variant A/G snv 31
rs11053646 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 18
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs679620 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 17
rs3025058 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
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
rs10903323 0.807 0.160 8 10292057 intron variant A/G snv 0.15 8
rs640198 0.851 0.040 11 102954362 intron variant T/G snv 0.68 4
rs974819 0.807 0.080 11 103789839 intron variant T/A;C snv 6
rs146292819 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 9
rs1239681664 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 15
rs4149313 0.763 0.240 9 104824472 missense variant T/C snv 9
rs532997003 0.882 0.040 9 104840464 missense variant T/C snv 2.0E-05 3
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
rs2288904 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 8
rs9797861 0.790 0.200 19 10632450 intron variant C/A;G;T snv 9
rs342293 0.882 0.040 7 106731773 intron variant C/G snv 0.42 7
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22