Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs587780071 0.732 0.240 17 7674951 missense variant G/A snv 15
rs7086803 0.763 0.160 10 112738717 intron variant G/A snv 0.20 9
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1050171 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 6
rs876658657 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72