Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs17107315 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 40
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs10741657 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs1799895 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 26
rs5219 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 25
rs1223231582 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 24
rs3217992 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 22
rs1693482 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 12
rs2237895 0.790 0.240 11 2835964 intron variant A/C;T snv 10
rs2195239 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 7
rs2229629
HK2
0.882 0.120 2 74889400 missense variant G/A snv 6.0E-02 0.18 4
rs786203926
ATM
0.882 0.120 11 108227678 synonymous variant T/C snv 4