Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 1 | ||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 1 | |||
rs1800751 | 0.851 | 0.160 | 17 | 43047676 | missense variant | G/A;C | snv | 4.0E-06 | 2 | ||
rs80357474 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 2 | ||
rs4987046 | 0.925 | 0.160 | 13 | 32319134 | missense variant | A/G | snv | 1.6E-03 | 1.6E-03 | 2 | |
rs80359078 | 0.882 | 0.160 | 13 | 32370430 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 2 | |
rs11782652 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 2 | ||
rs121913413 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 2 | |||
rs3814113 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 3 | ||
rs4954956 | 0.882 | 0.120 | 2 | 138787007 | regulatory region variant | C/T | snv | 0.25 | 3 | ||
rs67397200 | 0.827 | 0.160 | 19 | 17290595 | upstream gene variant | C/G | snv | 0.27 | 3 | ||
rs7365052 | 0.882 | 0.120 | 1 | 236786561 | intergenic variant | T/C | snv | 3 | |||
rs35068177 | 0.882 | 0.120 | 7 | 87550213 | synonymous variant | T/C | snv | 2.2E-04 | 3.1E-04 | 3 | |
rs186724 | 0.882 | 0.120 | 1 | 110018293 | intron variant | C/G;T | snv | 3 | |||
rs351771 | 0.882 | 0.120 | 5 | 112828864 | synonymous variant | G/A | snv | 0.65 | 0.59 | 3 | |
rs74315464 | 0.882 | 0.120 | 22 | 50627048 | missense variant | G/A;C | snv | 3 | |||
rs751039340 | 0.882 | 0.120 | 22 | 50625459 | missense variant | C/A | snv | 4.2E-06 | 3 | ||
rs567534295 | 0.882 | 0.120 | 17 | 43048090 | intron variant | C/T | snv | 2.8E-05 | 3 | ||
rs80357106 | 0.827 | 0.200 | 17 | 43092212 | stop gained | C/A | snv | 3 | |||
rs80357268 | 0.827 | 0.200 | 17 | 43045773 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs80357327 | 0.827 | 0.200 | 17 | 43115730 | missense variant | A/C;G;T | snv | 3 | |||
rs80357517 | 0.827 | 0.200 | 17 | 43092277 | frameshift variant | -/T | delins | 3 | |||
rs879255288 | 0.882 | 0.120 | 17 | 43094789 | missense variant | T/C;G | snv | 4.0E-06 | 3 | ||
rs55854959 | 0.882 | 0.120 | 13 | 32330979 | missense variant | G/A | snv | 2.4E-05 | 1.4E-04 | 3 | |
rs80358721 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 3 |