Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800625 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 35
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 79
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 103
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 47
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs689466 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 33
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
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
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 36
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
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 55
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32