Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397516436 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 26 | |||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 22 | |||
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 19 | ||
rs876660754 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 18 | |||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 14 | |||
rs10505477 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 13 | ||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 13 | ||
rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 11 | ||
rs121913413 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 10 | |||
rs63750695 | 0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins | 6 | |||
rs11651755 | 0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 | 5 | ||
rs587781803 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 5 | |||
rs80357438 | 0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv | 5 | |||
rs80357669 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 5 | |||
rs80359477 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 5 | |||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 4 | ||
rs185229225 | 0.851 | 0.120 | 4 | 13607505 | intron variant | T/C | snv | 4 | |||
rs3814113 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 4 | ||
rs587778617 | 0.807 | 0.240 | 7 | 5987504 | stop gained | G/A | snv | 7.0E-06 | 4 | ||
rs10088218 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 3 | ||
rs113954997 | 0.882 | 0.280 | 11 | 14294844 | missense variant | T/A;C | snv | 3 | |||
rs11782652 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 3 | ||
rs1243180 | 0.790 | 0.160 | 10 | 21626690 | intron variant | T/A | snv | 0.23 | 3 | ||
rs13281615 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 3 | ||
rs2072590 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 3 |