Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs608995 | 0.882 | 0.120 | 11 | 101035002 | 3 prime UTR variant | A/T | snv | 0.27 | 3 | ||
rs1456079929 | 0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 | 5 | ||
rs1042838 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 12 | ||
rs750042441 | 0.827 | 0.160 | 11 | 101128367 | missense variant | G/A;C | snv | 6.1E-05; 4.3E-06 | 5 | ||
rs2228611 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 19 | ||
rs759920 | 0.882 | 0.120 | 19 | 10174102 | intron variant | A/G;T | snv | 3 | |||
rs111970895 | 1.000 | 0.120 | 5 | 102301953 | upstream gene variant | -/AAA;AAAAAA | delins | 1 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs230521 | 0.851 | 0.160 | 4 | 102542171 | intron variant | C/G | snv | 0.59 | 4 | ||
rs4648068 | 0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 | 9 | ||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs141752671 | 0.708 | 0.280 | 11 | 103745837 | intron variant | A/G | snv | 5.4E-03 | 17 | ||
rs148883465 | 0.708 | 0.280 | 11 | 103813371 | intron variant | A/G | snv | 7.2E-03 | 17 | ||
rs200182588 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 6 | ||
rs4925 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 28 | |
rs2297235 | 0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 | 11 | ||
rs156697 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 25 | ||
rs873330 | 0.882 | 0.120 | 13 | 104807897 | intergenic variant | A/G | snv | 0.31 | 3 | ||
rs7679673 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 28 | ||
rs1565416788 | 1.000 | 0.120 | 11 | 108267302 | frameshift variant | TAGTGATGCAAAC/- | del | 1 | |||
rs1060501687 | 0.925 | 0.320 | 11 | 108272782 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs587779834 | 0.925 | 0.320 | 11 | 108284281 | frameshift variant | G/- | delins | 4.2E-05 | 3 | ||
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 |