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
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
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
rs1870134
XPC ; LSM3
0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 5
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1529916 0.851 0.120 16 8897333 intron variant G/A snv 0.26 4
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs11536889 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 27
rs1927911 0.658 0.640 9 117707776 intron variant A/G snv 0.62 28
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs4833095 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 28
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2853669 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 35
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 28
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131