Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs10719 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs763780 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70