Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 35
rs121913255 0.667 0.400 1 114713907 missense variant T/A;G snv 26
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs6684439 0.925 0.080 1 154423363 intron variant C/A;T snv 2
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs4950928 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 33
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs397514606 0.763 0.320 1 243695714 missense variant C/T snv 14
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
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