Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1617640 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 15 | |||
rs753350907 | 0.827 | 0.080 | 10 | 100806499 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs28935197 | 0.776 | 0.280 | X | 101398942 | missense variant | T/C | snv | 5.5E-06 | 10 | ||
rs104894833 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 11 | |
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs267607183 | 0.882 | 0.080 | 14 | 104703440 | missense variant | G/A | snv | 3 | |||
rs77113398 | 0.925 | 0.080 | 13 | 106451558 | intergenic variant | G/A | snv | 6.0E-03 | 2 | ||
rs7490924 | 0.925 | 0.080 | 13 | 106519396 | non coding transcript exon variant | A/G | snv | 0.51 | 2 | ||
rs2391335 | 0.925 | 0.080 | 13 | 106519637 | non coding transcript exon variant | T/C;G | snv | 0.50 | 2 | ||
rs143810759 | 0.851 | 0.280 | 13 | 108210371 | missense variant | C/T | snv | 1.6E-04 | 2.1E-04 | 6 | |
rs281874762 | 0.882 | 0.160 | X | 108578114 | stop gained | G/A;T | snv | 5.5E-06 | 3 | ||
rs281874682 | 0.925 | 0.080 | X | 108598805 | missense variant | C/A;T | snv | 5.5E-06 | 2 | ||
rs16347 | 0.925 | 0.080 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.70 | 2 | ||
rs1516792 | 0.925 | 0.080 | 2 | 112778356 | intron variant | G/A | snv | 2 | |||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
rs452204 | 0.807 | 0.200 | 2 | 113131484 | intron variant | G/A | snv | 0.45 | 7 | ||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs4730751 | 0.882 | 0.120 | 7 | 116540796 | intron variant | C/A | snv | 0.22 | 4 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
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 | |
rs398123538 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 6 |