Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs120074192 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 10 | |||
rs267607277 | 0.807 | 0.120 | 14 | 90404386 | missense variant | A/G | snv | 6 | |||
rs1208917022 | 1.000 | 0.040 | 12 | 6936663 | missense variant | A/G | snv | 3 | |||
rs104894393 | 0.925 | 0.120 | 13 | 101726785 | missense variant | A/G | snv | 2 | |||
rs3864180 | 1.000 | 0.040 | 13 | 91784234 | intron variant | A/G;T | snv | 1 | |||
rs35829419 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 23 | |
rs73598374 | 0.790 | 0.280 | 20 | 44651586 | missense variant | C/A;G;T | snv | 7.1E-06; 6.2E-02 | 8 | ||
rs12720459 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 7 | |||
rs116928232 | 0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 | 9 | ||
rs587777598 | 0.851 | 0.200 | 6 | 79921662 | missense variant | C/G;T | snv | 4 | |||
rs11720524 | 0.882 | 0.080 | 3 | 38633921 | intron variant | C/G;T | snv | 0.34 | 3 | ||
rs730880082 | 0.882 | 0.120 | 6 | 7576986 | stop gained | C/G;T | snv | 3 | |||
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs113994095 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 31 | |
rs887829 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 18 | ||
rs11886868 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 12 | ||
rs4149000 | 0.882 | 0.080 | 12 | 21295063 | non coding transcript exon variant | C/T | snv | 0.11 | 5 | ||
rs192749597 | 0.882 | 0.080 | 12 | 2679712 | missense variant | C/T | snv | 9.2E-04 | 3.5E-03 | 3 | |
rs7208480 | 1.000 | 0.040 | 17 | 15770470 | non coding transcript exon variant | C/T | snv | 0.28 | 1 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs587782933 | 0.827 | 0.200 | 12 | 2504526 | missense variant | G/A | snv | 5 | |||
rs786205753 | 0.925 | 0.080 | 12 | 2593255 | missense variant | G/A | snv | 3 | |||
rs80315385 | 0.882 | 0.200 | 12 | 2504932 | missense variant | G/A | snv | 3 |