Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
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
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
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
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1056827 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs10936599 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
rs2075685 0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs2075686 0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02 13
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
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs28360317 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193