Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1800471 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs3918242 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs153109 0.623 0.600 16 28507775 intron variant T/C snv 0.43 37
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs10936599 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34