Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80359601 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs28366003 0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 10
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs3742330 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 24
rs148704956 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 19
rs937283 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
rs769412 0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02 6
rs2230600 0.827 0.160 4 86769845 missense variant A/G snv 0.18 0.14 5
rs10088262 0.925 0.160 8 123753462 intergenic variant A/G snv 0.56 2
rs4646903 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs13078 0.827 0.280 14 95090410 3 prime UTR variant A/T snv 0.85 5
rs1216411295 1.000 0.120 10 6025837 missense variant A/T snv 4.0E-06 1
rs3802842 0.695 0.280 11 111300984 intron variant C/A snv 0.71 25
rs1056827 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs1321311 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 15
rs2298881 0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs771176824 1.000 0.120 7 101916181 missense variant C/A;T snv 1
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2735383 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 18
rs1378286181 1.000 0.120 19 1632076 missense variant C/G snv 7.0E-06 1
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs4253211 0.882 0.240 10 49470271 missense variant C/G;T snv 7.1E-02; 2.0E-05 3