Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs483353122 | 0.851 | 0.200 | 13 | 32363410 | frameshift variant | -/AG | ins | 4 | |||
rs1114167628 | 0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins | 5 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs886040340 | 0.882 | 0.080 | 13 | 32319111 | frameshift variant | -/C | delins | 4 | |||
rs28360317 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 15 | ||
rs11283943 | 0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins | 4 | |||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 8 | ||
rs3215684 | 0.925 | 0.080 | 20 | 50578329 | intron variant | -/T;TC | ins | 0.62 | 2 | ||
rs70991108 | 0.807 | 0.280 | 5 | 80654344 | intron variant | -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT | ins | 0.51 | 6 | ||
rs1414323823 | 0.851 | 0.160 | 15 | 74722772 | frameshift variant | -/TCTCGGT | ins | 4.0E-06 | 4 | ||
rs113211432 | 0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins | 3 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs28381975 | 0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins | 5 | |||
rs5780218 | 0.882 | 0.080 | 1 | 204196482 | 5 prime UTR variant | A/- | delins | 0.44 | 4 | ||
rs587780174 | 0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 | 7 | |
rs80359770 | 0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins | 5 | |||
rs886039958 | 0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins | 3 | |||
rs10043985 | 0.925 | 0.080 | 5 | 111065770 | upstream gene variant | A/C | snv | 5.2E-02 | 2 | ||
rs11085735 | 0.925 | 0.080 | 19 | 10491504 | intron variant | A/C | snv | 0.92 | 2 | ||
rs11814448 | 0.925 | 0.080 | 10 | 22026914 | intergenic variant | A/C | snv | 0.21 | 2 | ||
rs11895168 | 0.925 | 0.080 | 2 | 211377467 | 3 prime UTR variant | A/C | snv | 0.68 | 4 | ||
rs1204382931 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 10 | ||
rs12239582 | 0.925 | 0.080 | 1 | 76371552 | intron variant | A/C | snv | 0.30 | 2 | ||
rs1326306 | 0.925 | 0.080 | 13 | 31364049 | intergenic variant | A/C | snv | 0.67 | 2 | ||
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 |