Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs2298881 0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1058808 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs1143623 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 29
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs6713088 0.763 0.200 2 54118332 intron variant C/G snv 0.48 9
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs2808668
XPA
0.851 0.120 9 97690153 intron variant C/G;T snv 7
rs5277 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 9
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55