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 | 0.160 | 18 | 23552736 | intron variant | C/G;T | snv | 0.700 | 1.000 | 7 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.160 | 18 | 23582324 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 18 | 23540458 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2016 | ||||
|
1 | 1.000 | 0.160 | 18 | 23543487 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.160 | 18 | 23536743 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2005 | 2009 | |||||
|
1 | 1.000 | 0.160 | 18 | 23539394 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2013 | ||||
|
1 | 1.000 | 0.160 | 18 | 23539845 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2001 | 2009 | |||||
|
1 | 1.000 | 0.160 | 18 | 23539893 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.160 | 18 | 23554972 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.160 | 18 | 23535485 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 18 | 23536689 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 18 | 23539936 | stop gained | G/A;C | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.160 | 18 | 23539373 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.160 | 18 | 23539842 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.160 | 18 | 23556427 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.160 | 18 | 23568853 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23560391 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23539981 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23556398 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23539810 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23544346 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23568980 | stop gained | A/C;G | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 18 | 23561491 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | 18 | 23538564 | missense variant | G/C | snv | 1.2E-04 | 2.1E-04 | 0.800 | 1.000 | 31 | 1997 | 2016 | |||
|
3 | 0.882 | 0.160 | 18 | 23538609 | missense variant | C/A;G;T | snv | 4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05 | 0.800 | 1.000 | 30 | 1997 | 2016 |