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 | 0.160 | 7 | 107683531 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 107698042 | frameshift variant | -/C | delins | 0.700 | 1.000 | 7 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 107683351 | frameshift variant | -/G | delins | 1.2E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.160 | 7 | 107672192 | frameshift variant | -/T | delins | 0.700 | 1.000 | 2 | 2005 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 107710138 | frameshift variant | -/TA | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 7 | 107690212 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.160 | 7 | 107675077 | frameshift variant | A/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.160 | 7 | 107661696 | frameshift variant | A/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 7 | 107698076 | missense variant | A/C | snv | 0.700 | 1.000 | 5 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.160 | 7 | 107694619 | splice acceptor variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 107690220 | missense variant | A/C;G | snv | 2.0E-04; 4.0E-06 | 0.810 | 1.000 | 21 | 1997 | 2013 | ||||
|
3 | 0.925 | 0.160 | 7 | 107690236 | missense variant | A/C;G | snv | 8.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.280 | 7 | 107710132 | missense variant | A/G | snv | 1.2E-04 | 3.5E-05 | 0.820 | 1.000 | 23 | 1997 | 2014 | |||
|
3 | 0.925 | 0.160 | 7 | 107700135 | missense variant | A/G | snv | 1.6E-05 | 0.800 | 1.000 | 23 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.160 | 7 | 107696036 | missense variant | A/G | snv | 5.6E-05 | 6.3E-05 | 0.800 | 1.000 | 22 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 7 | 107690125 | missense variant | A/G | snv | 1.1E-04 | 1.5E-04 | 0.800 | 1.000 | 20 | 1997 | 2009 | |||
|
1 | 1.000 | 0.160 | 7 | 107672147 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 18 | 1997 | 2009 | ||||
|
2 | 0.925 | 0.160 | 7 | 107694476 | missense variant | A/G | snv | 7.6E-05 | 2.1E-05 | 0.710 | 1.000 | 7 | 2000 | 2015 | |||
|
1 | 1.000 | 0.160 | 7 | 107690212 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2011 | 2015 | |||
|
2 | 0.925 | 0.160 | 7 | 107710135 | missense variant | A/G | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 6 | 2004 | 2015 | |||
|
4 | 0.925 | 0.160 | 7 | 107683453 | splice acceptor variant | A/G | snv | 3.6E-04 | 1.7E-04 | 0.700 | 1.000 | 5 | 1999 | 2012 | |||
|
1 | 1.000 | 0.160 | 7 | 107696017 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.160 | 7 | 107661637 | splice acceptor variant | A/G | snv | 1.2E-04 | 2.7E-04 | 0.700 | 1.000 | 4 | 2006 | 2015 | |||
|
1 | 1.000 | 0.160 | 7 | 107663294 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2002 | 2005 | |||||
|
4 | 0.851 | 0.160 | 2 | 26465753 | missense variant | A/G | snv | 4.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 |