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
rs5751129 0.752 0.320 22 41619761 intron variant C/T snv 0.69 14
rs6869366 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
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
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1214285376 0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 8
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
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
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
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs2602141 0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47 9