Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs2308321 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1322648460 0.776 0.320 11 35139332 frameshift variant G/- delins 9
rs1801270 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22