Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1056827 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs4148323 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 22
rs56161233 0.925 0.120 2 235055489 3 prime UTR variant C/T snv 0.11 2
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs115160714 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 9
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs989902 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 12
rs2230600 0.827 0.160 4 86769845 missense variant A/G snv 0.18 0.14 5
rs1864183 0.742 0.240 5 82253397 missense variant C/T snv 0.52 0.40 12
rs4975616 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 12
rs6877842 0.807 0.320 5 31532531 intron variant G/C snv 0.16 7
rs5744455 0.882 0.160 5 140633722 upstream gene variant G/A;T snv 5
rs28903090 0.925 0.120 5 132587981 missense variant G/T snv 1.2E-03 1.4E-03 2
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs763780 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs148704956 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 19
rs748148861 0.925 0.120 6 167136856 missense variant G/C snv 8.0E-06 2
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs4725443 0.925 0.120 7 152170176 intron variant T/C snv 9.3E-02 2
rs6464211 0.925 0.160 7 152176768 synonymous variant C/T snv 0.24 0.34 2
rs6943984 0.925 0.120 7 152201919 intron variant G/A snv 0.11 2
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs865789884 0.925 0.120 8 23145778 missense variant G/A;C snv 4.0E-06 2