Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 70 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs1800471 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 48 | ||
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs777919630 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 40 | ||
rs368087026 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 33 | |||
rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 32 | |
rs7493 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 24 | |
rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 20 | |
rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
rs1617640 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 15 | |||
rs34557412 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 15 | |
rs137852834 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 13 | |
rs121918079 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 10 | |||
rs188942711 | 0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs7582694 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 9 | ||
rs886039813 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 8 | |||
rs771454167 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 6 | |
rs12026 | 0.827 | 0.240 | 7 | 95411704 | missense variant | G/C | snv | 0.27 | 0.27 | 6 | |
rs74315289 | 0.827 | 0.280 | 1 | 54999325 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 | 5 |