Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3917356 0.882 0.160 2 112834786 intron variant C/T snv 0.39 4
rs6720283 0.882 0.120 2 237401239 intron variant G/A snv 0.31 4
rs9679162 0.882 0.120 2 31024648 intron variant G/T snv 0.48 4
rs11889031 1.000 0.080 2 203934671 upstream gene variant C/T snv 0.15 1
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs3816527 0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64 9
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8
rs2228468 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 6
rs6762208 0.851 0.200 3 185613377 missense variant C/A;T snv 0.36; 1.2E-05 4
rs7628626 0.925 0.120 3 119525574 3 prime UTR variant A/C snv 0.82 2
rs1187825488 1.000 0.080 3 75737670 frameshift variant TT/- del 7.9E-04 1
rs761797378 1.000 0.080 3 75737671 missense variant T/A snv 2.0E-05 2.0E-05 1
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs2071559
KDR
0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 26
rs11730582 0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37 10
rs13140012 0.827 0.320 4 186544404 intron variant T/A snv 0.41 6
rs2622621 0.851 0.240 4 88109768 intron variant C/A;G snv 6
rs4693608 0.827 0.200 4 83320204 intron variant G/A;C snv 6
rs11099592 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 5
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs20541 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 52
rs11064 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 9
rs10053538 0.807 0.160 5 157110499 intron variant C/A;T snv 7
rs4705341 0.882 0.120 5 149426373 non coding transcript exon variant A/G snv 0.13 3