Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs2237895 0.790 0.240 11 2835964 intron variant A/C;T snv 10
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5219 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 25
rs786203926
ATM
0.882 0.120 11 108227678 synonymous variant T/C snv 4
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1223231582 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 24
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs17107315 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 40
rs1799895 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 26
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs4994 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65