Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs3747093 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs11685387 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 9
rs9288518 0.776 0.240 2 216196997 intron variant A/G snv 0.35 9
rs6869366 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
rs28360317 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs3734091 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 19
rs3218408 0.882 0.120 7 152670531 intron variant A/C;T snv 3
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
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
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs1801195
WRN
0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46 8
rs2230009
WRN
0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02 5
rs10506868 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 16
rs11196067 0.752 0.160 10 112709306 intron variant A/T snv 0.32 10
rs12241008 0.716 0.160 10 112520943 intron variant T/C snv 0.13 16
rs7086803 0.763 0.160 10 112738717 intron variant G/A snv 0.20 9
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs1989969
VDR
0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 8