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
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs2075685 0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs31490 0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06 8
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
rs1801270 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
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
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1322648460 0.776 0.320 11 35139332 frameshift variant G/- delins 9
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39