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 | 0.080 | 14 | 50944359 | frameshift variant | -/ATCTGCCGCCGCTTCTCCTG | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 50905475 | missense variant | A/G | snv | 3.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 50910049 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 14 | 50911799 | missense variant | C/A;G | snv | 4.0E-06; 3.7E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 50913028 | splice donor variant | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.4E-05 | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||
|
1 | 1.000 | 0.080 | 14 | 50924101 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50912155 | splice donor variant | C/G;T | snv | 4.0E-05 | 0.700 | 1.000 | 3 | 1998 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 50915373 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 50910055 | missense variant | C/T | snv | 4.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 50912195 | stop gained | G/A | snv | 6.0E-05 | 9.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 14 | 50937801 | stop gained | G/A | snv | 1.6E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 50915869 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 50914748 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 50905469 | stop gained | G/A;C | snv | 6.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 50910048 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 50915933 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50911804 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50916718 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50937774 | frameshift variant | TGATCATGGT/- | delins | 0.700 | 0 |