Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2853669 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 35
rs2031920 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs1870134
XPC ; LSM3
0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 5
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 54
rs1200055659 0.851 0.080 1 153614902 missense variant G/A snv 7.0E-06 4
rs3804100 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 36
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs11134527 0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs12108497 0.851 0.080 4 184650403 intron variant C/G;T snv 6
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs689466 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 33
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1760893 0.807 0.080 14 20412501 intron variant C/A snv 0.89 6
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs5744174 0.742 0.360 1 223111186 missense variant A/G snv 0.39 0.34 13