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
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
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
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs9651118 0.683 0.480 1 11802157 intron variant T/C snv 0.18 20
rs2072668 0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24 14
rs2304277 0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26 8
rs11574311
WRN
0.776 0.160 8 31119144 intron variant T/C snv 0.16 8
rs1801195
WRN
0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46 8
rs2725338
WRN
0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02 7
rs1063147
BLM
0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 6
rs2725383
WRN
0.807 0.120 8 31075099 intron variant C/G snv 0.76 6
rs4733220
WRN
0.807 0.120 8 31043374 intron variant A/G snv 0.50 6
rs2229090
XPC
0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 6
rs2057768 0.925 0.120 16 27310774 upstream gene variant C/A;G;T snv 4
rs2107356 0.851 0.240 16 27312083 upstream gene variant C/T snv 0.35 4
rs7278468 0.882 0.280 21 43168647 upstream gene variant T/A;G snv 3
rs477558 0.925 0.080 1 17893333 intergenic variant G/A snv 0.54 2
rs7548209 0.925 0.080 1 16122127 downstream gene variant G/C snv 0.36 2
rs6657114 0.925 0.120 1 147905591 upstream gene variant G/T snv 0.27 2