Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 7
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs4796793 0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 16
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs80357522 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs80359601 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs869025212 0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs78378222 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs700635 0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 3
rs57343616 1.000 0.040 12 56229563 3 prime UTR variant C/T snv 4.2E-02 2
rs778031266 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4
rs2303425 0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 8
rs659857 1.000 0.040 11 65862461 synonymous variant T/C snv 0.57 0.52 2
rs2151280 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 16
rs12210050 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 8
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205