Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2296147 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 21
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
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
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs187115 0.695 0.320 11 35154612 intron variant T/C snv 0.37 22
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs4646903 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs10012 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 16
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs909797662 0.790 0.120 7 55191837 missense variant G/A snv 8
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs1050171 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 6