Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3761121 | 1.000 | 0.040 | 20 | 63711343 | intron variant | T/C | snv | 0.10 | 1 | ||
rs71305152 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 5 | ||
rs5019252 | 1.000 | 0.040 | 20 | 63746996 | synonymous variant | C/T | snv | 0.34 | 0.30 | 1 | |
rs648044 | 0.882 | 0.040 | 11 | 114160077 | non coding transcript exon variant | A/G;T | snv | 4 | |||
rs6519265 | 1.000 | 0.040 | 22 | 41629346 | intron variant | A/G | snv | 1 | |||
rs9288516 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 6 | ||
rs3770502 | 1.000 | 0.040 | 2 | 216180336 | intron variant | C/T | snv | 0.12 | 1 | ||
rs828704 | 1.000 | 0.040 | 2 | 216128888 | intron variant | C/A | snv | 0.81 | 1 | ||
rs1805377 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 19 | |
rs3212112 | 1.000 | 0.040 | 14 | 103699345 | intron variant | A/C | snv | 7.1E-03 | 2.2E-02 | 1 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs1214285376 | 0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 | 8 | ||
rs148611340 | 0.790 | 0.120 | 19 | 43543621 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 | 7 | ||
rs199613843 | 0.807 | 0.160 | 19 | 43551609 | synonymous variant | C/T | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs2307191 | 0.827 | 0.120 | 19 | 43553616 | missense variant | G/A | snv | 1.2E-03 | 4.8E-03 | 5 | |
rs72554204 | 0.827 | 0.120 | 19 | 43546062 | missense variant | C/T | snv | 1.2E-04 | 1.3E-04 | 5 | |
rs25490 | 0.851 | 0.120 | 19 | 43552189 | missense variant | T/C | snv | 7.2E-03 | 2.6E-02 | 4 | |
rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
rs10506868 | 0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 | 16 | ||
rs12241008 | 0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 | 16 | ||
rs11196067 | 0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 | 10 | ||
rs11599775 | 1.000 | 0.040 | 10 | 112699938 | intron variant | G/A | snv | 0.27 | 2 | ||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 |