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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 | 0.810 | 1.000 | 10 | 2001 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 25809096 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 2001 | 2010 | |||||
|
1 | 1.000 | 0.120 | 1 | 25812763 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 7 | 2001 | 2010 | |||
|
1 | 1.000 | 0.120 | 1 | 25813899 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 7 | 2001 | 2010 | ||||
|
1 | 1.000 | 0.120 | 1 | 25813890 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 0.800 | 1.000 | 6 | 2001 | 2009 | |||
|
1 | 1.000 | 0.120 | 1 | 25812789 | missense variant | T/G | snv | 0.800 | 1.000 | 6 | 2001 | 2009 | |||||
|
1 | 1.000 | 0.120 | 1 | 25813898 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.120 | 1 | 25811462 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 6 | 2001 | 2009 | ||||
|
1 | 1.000 | 0.120 | 1 | 25809688 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2001 | 2009 | ||||
|
1 | 1.000 | 0.120 | 1 | 25808753 | frameshift variant | -/A | delins | 0.700 | 1.000 | 4 | 2002 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 25800232 | start lost | T/A;C;G | snv | 7.4E-06 | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 25800231 | start lost | A/G | snv | 4.5E-05 | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 25802115 | splice donor variant | GAGT/- | delins | 1.1E-04 | 3.2E-04 | 0.700 | 1.000 | 2 | 2011 | 2011 | |||
|
25 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 25812720 | stop gained | C/G;T | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 1 | 25808707 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 25809731 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 25801105 | frameshift variant | -/GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 25800396 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 25812790 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
25 | 0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 25812780 | stop gained | C/T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 25800233 | frameshift variant | -/CGGCCGGGCC | delins | 7.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 25813962 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 |