| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 16 | 89816551 | stop gained | C/T | snv | 1.2E-04 | 4.2E-05 | 0.700 | 1.000 | 6 | 1997 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 89761970 | stop gained | -/TCAGGTTGAATTTCCAGCT | delins | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 4 | 1997 | 2015 | |||
|
2 | 0.925 | 0.120 | 16 | 89767185 | stop gained | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 89778948 | stop gained | G/A;C | snv | 8.0E-06 | 8.4E-05 | 0.700 | 1.000 | 4 | 1999 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 89815903 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89758688 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2008 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 89767213 | stop gained | G/A;C;T | snv | 4.0E-06; 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 16 | 89784946 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.120 | 16 | 89771803 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 89799620 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2005 | 2011 | |||
|
1 | 1.000 | 0.120 | 16 | 89740044 | stop gained | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1997 | 2013 | ||||
|
2 | 0.925 | 0.120 | 16 | 89811060 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 16 | 89803333 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 9 | 35076442 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.200 | 9 | 95150056 | stop gained | G/A | snv | 5.6E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 16 | 89799203 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.120 | 16 | 89744993 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 16 | 89746857 | stop gained | G/A;C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 16 | 89799197 | stop gained | C/A | snv | 6.0E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.120 | 16 | 89816605 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 16 | 89771722 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.120 | 16 | 89761961 | stop gained | G/C | snv | 4.0E-06; 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.120 | 16 | 89808341 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 89770168 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 16 | 89815966 | stop gained | T/A | snv | 5.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 |