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 | 0.120 | 2 | 43822924 | stop gained | G/A;C;T | snv | 1.8E-04; 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 2007 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 43823926 | missense variant | G/A;C | snv | 1.3E-04; 1.6E-05 | 0.710 | 1.000 | 4 | 2001 | 2004 | ||||
|
2 | 1.000 | 0.120 | 2 | 43875377 | missense variant | G/A | snv | 6.4E-05 | 2.2E-04 | 0.700 | 1.000 | 3 | 2000 | 2004 | |||
|
1 | 1.000 | 0.120 | 2 | 43852692 | missense variant | G/A | snv | 1.4E-04 | 6.3E-05 | 0.700 | 1.000 | 3 | 2000 | 2004 | |||
|
1 | 1.000 | 0.120 | 2 | 43877591 | missense variant | T/G | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2004 | ||||
|
1 | 1.000 | 0.120 | 2 | 43852483 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2004 | ||||
|
1 | 1.000 | 0.120 | 2 | 43875286 | missense variant | G/T | snv | 2.1E-04 | 1.8E-04 | 0.700 | 1.000 | 3 | 2000 | 2004 | |||
|
1 | 1.000 | 0.120 | 2 | 43852616 | missense variant | G/A | snv | 8.9E-04 | 9.8E-04 | 0.700 | 1.000 | 3 | 2000 | 2004 | |||
|
1 | 1.000 | 0.120 | 2 | 43851812 | missense variant | G/A | snv | 2.0E-05 | 8.4E-05 | 0.700 | 1.000 | 3 | 2000 | 2004 | |||
|
1 | 1.000 | 0.120 | 2 | 43875372 | missense variant | T/C | snv | 9.6E-05 | 9.1E-05 | 0.700 | 1.000 | 3 | 2000 | 2004 | |||
|
1 | 1.000 | 0.120 | 2 | 43824350 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 2 | 43824071 | missense variant | C/T | snv | 1.5E-04 | 8.4E-05 | 0.710 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 2 | 43846309 | stop gained | C/G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.120 | 2 | 43871975 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 43873789 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 43823981 | missense variant | C/G;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 43875159 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43875378 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 43831834 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43824359 | frameshift variant | T/- | delins | 0.700 | 0 |