Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs2229629
HK2
0.882 0.120 2 74889400 missense variant G/A snv 6.0E-02 0.18 4
rs780094 0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
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
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs1693482 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 12
rs1799895 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 26
rs17107315 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 40
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1223231582 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 24
rs4994 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs3217992 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 22
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs10741657 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs2237895 0.790 0.240 11 2835964 intron variant A/C;T snv 10