Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3751936 0.925 0.120 17 80964404 3 prime UTR variant G/C snv 0.20 2
rs4149086 0.925 0.120 12 21239517 3 prime UTR variant A/G snv 4.5E-04 2
rs7074891 0.925 0.120 10 17146475 3 prime UTR variant C/T snv 0.95 2
rs9904341 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs786203926
ATM
0.882 0.120 11 108227678 synonymous variant T/C snv 4
rs138147246 0.925 0.120 3 9756551 synonymous variant A/G snv 8.0E-06 1.4E-05 2
rs145574072 0.925 0.120 3 9754765 synonymous variant T/C snv 4.0E-06 2
rs1800843 0.925 0.120 11 6270835 synonymous variant C/A;G snv 0.16; 4.0E-06 0.19 2
rs488087
CEL
0.925 0.120 9 133071212 synonymous variant C/A;T snv 0.11 0.26 2
rs7993418 0.925 0.120 13 28308924 synonymous variant G/A snv 0.80 0.67 2
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs11655237 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 17
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs2195239 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 7
rs200349340 0.925 0.120 12 53962704 non coding transcript exon variant T/A;G snv 2
rs2074733 0.925 0.120 22 30342598 non coding transcript exon variant T/C snv 0.53 2
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242