Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
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
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1208415127 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 6
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs121913483 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs3212227 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs402710 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs1141718 0.724 0.280 6 159688224 missense variant A/G snv 15
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs25648 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 11
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs763780 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41