Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28368082 20 57335452 missense variant C/T snv 5.7E-05 1
rs35033974 19 43416460 missense variant G/T snv 8.3E-02 8.3E-02 1
rs372015936 2 197743089 missense variant G/A;C snv 4.1E-05; 4.1E-06 1
rs3750075 7 73329400 missense variant C/A;T snv 2.4E-03 8.7E-04 1
rs375376464 16 11276355 missense variant C/T snv 4.0E-06 7.0E-06 1
rs3817444 4 55509814 intron variant A/C snv 0.69 1
rs4804490 19 10156335 intron variant C/A snv 0.11 1
rs4844247 X 70670451 missense variant C/T snv 0.10 7.8E-02 1
rs6068020 20 51943113 intergenic variant T/C snv 0.63 1
rs6124715 20 45548848 upstream gene variant C/G;T snv 1
rs6476866 9 4459274 intergenic variant G/A snv 0.55 1
rs6631
CGA
6 87085541 3 prime UTR variant A/T snv 0.40 1
rs72609647 Y 12678428 intron variant T/G snv 4.6E-03 1
rs751680143 7 100198542 stop gained C/T snv 2.8E-05 1.4E-05 1
rs8069533 17 7294314 missense variant A/G snv 0.46 0.48 1
rs952566855
ATM
11 108259068 missense variant A/G snv 7.0E-06 1
rs9814870 3 95969999 intergenic variant A/G;T snv 0.19 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205