Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs606231451 | 0.925 | 0.120 | 1 | 1535372 | missense variant | G/A | snv | 2 | |||
rs12720459 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 7 | |||
rs3512 | 0.925 | 0.160 | 15 | 30942802 | 3 prime UTR variant | G/C | snv | 0.27 | 4 | ||
rs1805323 | 0.925 | 0.160 | 7 | 5987311 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-02 | 2 | ||
rs587782933 | 0.827 | 0.200 | 12 | 2504526 | missense variant | G/A | snv | 5 | |||
rs587777598 | 0.851 | 0.200 | 6 | 79921662 | missense variant | C/G;T | snv | 4 | |||
rs80315385 | 0.882 | 0.200 | 12 | 2504932 | missense variant | G/A | snv | 3 | |||
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 35 | ||
rs3734960 | 0.925 | 0.240 | 7 | 154892443 | missense variant | T/C | snv | 0.33 | 0.36 | 2 | |
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
rs887829 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 18 | ||
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs11886868 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 12 | ||
rs73598374 | 0.790 | 0.280 | 20 | 44651586 | missense variant | C/A;G;T | snv | 7.1E-06; 6.2E-02 | 8 | ||
rs9399137 | 0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 | 13 | ||
rs786205745 | 0.807 | 0.320 | 12 | 2504538 | missense variant | G/A;C | snv | 6 | |||
rs79891110 | 0.807 | 0.320 | 12 | 2504944 | stop gained | G/A;T | snv | 6 | |||
rs113994095 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 31 | |
rs8175347 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 16 | |||
rs1805015 | 0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 | 22 | |
rs35829419 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 23 | |
rs777919630 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 40 | ||
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 |