Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1565499148 | 1.000 | 0.120 | 11 | 108315904 | frameshift variant | -/T | delins | 1 | |||
rs587781894 | 0.882 | 0.360 | 11 | 108365360 | missense variant | G/A;C | snv | 8.0E-06 | 7.0E-06 | 4 | |
rs638820 | 0.827 | 0.160 | 1 | 109667284 | intron variant | G/A | snv | 0.52 | 5 | ||
rs186724 | 0.882 | 0.120 | 1 | 110018293 | intron variant | C/G;T | snv | 3 | |||
rs2165109 | 0.925 | 0.120 | 2 | 111061081 | intron variant | A/C | snv | 0.25 | 2 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs11954856 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 12 | ||
rs17561 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 23 | |
rs351771 | 0.882 | 0.120 | 5 | 112828864 | synonymous variant | G/A | snv | 0.65 | 0.59 | 3 | |
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs459552 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 14 | ||
rs10260419 | 0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 | 3 | ||
rs6134303 | 1.000 | 0.120 | 20 | 11586401 | intergenic variant | T/G | snv | 0.67 | 1 | ||
rs1791890 | 1.000 | 0.120 | 11 | 116120763 | intergenic variant | A/G | snv | 0.44 | 1 | ||
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 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs145022376 | 1.000 | 0.120 | 10 | 1186289 | intron variant | C/- | delins | 9.1E-03 | 1 | ||
rs12031579 | 1.000 | 0.120 | 1 | 119307920 | intron variant | G/A | snv | 6.8E-02 | 1 | ||
rs66696671 | 1.000 | 0.120 | 10 | 119607441 | intergenic variant | G/T | snv | 0.25 | 1 | ||
rs7953249 | 0.882 | 0.160 | 12 | 120965921 | splice region variant | G/A | snv | 0.59 | 4 | ||
rs11200014 | 0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 | 19 | ||
rs2981582 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 21 |