Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs2233406 0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26 12