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 | 4 | 158682264 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.080 | 4 | 158680482 | frameshift variant | -/T | delins | 0.700 | 1.000 | 3 | 2003 | 2007 | |||||
|
2 | 0.925 | 0.160 | 4 | 158684619 | missense variant | G/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 158703447 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 158682314 | frameshift variant | -/GT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 158706845 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 158690406 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 4 | 158682399 | missense variant | T/A;C | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 6 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.080 | 4 | 158690393 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 158699051 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 158706269 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 158680553 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2014 | |||
|
1 | 1.000 | 0.080 | 4 | 158706228 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 4 | 158703436 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 6 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.080 | 4 | 158684649 | missense variant | A/G | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 158703592 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2013 | |||
|
2 | 0.925 | 0.080 | 4 | 158685137 | missense variant | G/A;C;T | snv | 1.6E-05; 8.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.080 | 4 | 158684599 | missense variant | T/G | snv | 8.0E-06 | 1.4E-05 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 158703540 | stop gained | G/T | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 158706691 | missense variant | G/A | snv | 2.0E-05 | 1.5E-04 | 0.700 | 1.000 | 3 | 2012 | 2014 | |||
|
1 | 1.000 | 0.080 | 4 | 158699015 | missense variant | T/C | snv | 2.4E-05 | 2.8E-05 | 0.800 | 1.000 | 2 | 2003 | 2007 | |||
|
1 | 1.000 | 0.080 | 4 | 158706761 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2008 | 2012 | |||
|
2 | 0.925 | 0.080 | 4 | 158706351 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.800 | 1.000 | 4 | 2007 | 2014 | |||
|
1 | 1.000 | 0.080 | 4 | 158708505 | missense variant | G/A | snv | 2.8E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 2003 | 2010 | |||
|
1 | 1.000 | 0.080 | 4 | 158706317 | missense variant | G/A | snv | 3.6E-05 | 0.700 | 1.000 | 2 | 2003 | 2012 |