Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.200 | 19 | 35034040 | missense variant | G/A;C;T | snv | 7.9E-04; 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.200 | 17 | 68537671 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06; 6.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 68555742 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 17 | 68542737 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 17 | 68540861 | missense variant | C/T | snv | 3.0E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 17 | 68542796 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 17 | 68600632 | frameshift variant | AG/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 17 | 68542811 | splice acceptor variant | T/C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 17 | 68540889 | frameshift variant | AGCCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 17 | 68554829 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 17 | 68543723 | splice acceptor variant | T/C | snv | 5.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 17 | 68554805 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 17 | 68542102 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 12 | 21765733 | missense variant | G/A;C | snv | 1.8E-03; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.200 | 12 | 2686232 | missense variant | A/G | snv | 2.2E-04 | 4.9E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.240 | 7 | 154892443 | missense variant | T/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.200 | 3 | 38550619 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |