Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs118203478 | 0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins | 5 | |||
rs1553948516 | 0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins | 3 | |||
rs1567202189 | 1.000 | 0.080 | 16 | 2111276 | inframe insertion | -/GTG | ins | 2 | |||
rs1555487316 | 0.882 | 0.240 | 16 | 20348247 | missense variant | A/C | snv | 5 | |||
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 | |
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs34557412 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 15 | |
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 | |
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 | |||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs7582694 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 9 | ||
rs1800471 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 48 | ||
rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 20 | |
rs281874657 | 0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv | 3 | |||
rs202047589 | 0.925 | 0.160 | 10 | 97599780 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 | 2 | |
rs368087026 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 33 | |||
rs17319721 | 0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 | 5 | ||
rs74315289 | 0.827 | 0.280 | 1 | 54999325 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 | 5 | |
rs367825197 | 0.925 | 0.080 | 7 | 131509412 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 70 | ||
rs538166970 | 0.925 | 0.080 | 17 | 63496920 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 2 |