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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2009 | 2015 | |||||
|
3 | 0.882 | 0.080 | 14 | 23424907 | inframe deletion | TCT/- | delins | 0.700 | 1.000 | 4 | 2009 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23415651 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 8 | 2008 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 23422291 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05 | 0.700 | 1.000 | 7 | 2008 | 2017 | ||||
|
2 | 0.925 | 0.080 | 14 | 23422292 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2008 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 23431590 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2017 | ||||
|
6 | 0.807 | 0.080 | 14 | 23431589 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2011 | ||||
|
9 | 0.763 | 0.160 | 14 | 23424041 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2008 | 2017 | |||||
|
4 | 0.882 | 0.080 | 14 | 23429038 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 2006 | 2017 | |||
|
1 | 1.000 | 0.080 | 14 | 23424854 | missense variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 23415652 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 23427746 | missense variant | T/C | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 2005 | 2017 | |||
|
3 | 0.882 | 0.080 | 14 | 23428587 | missense variant | C/A | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2015 | ||||
|
3 | 0.882 | 0.080 | 14 | 23424842 | missense variant | C/T | snv | 2.4E-05 | 9.1E-05 | 0.700 | 1.000 | 16 | 2004 | 2019 | |||
|
4 | 0.882 | 0.080 | 14 | 23424876 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 8 | 2004 | 2017 | ||||
|
4 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 2004 | 2013 | |||||
|
4 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 1.000 | 7 | 2004 | 2013 | ||||
|
2 | 0.925 | 0.080 | 14 | 23422267 | missense variant | C/T | snv | 6.4E-05 | 7.7E-05 | 0.700 | 1.000 | 7 | 2004 | 2017 | |||
|
3 | 0.882 | 0.080 | 14 | 23424148 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2017 | ||||
|
4 | 0.882 | 0.080 | 14 | 23418313 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2013 | ||||
|
2 | 0.925 | 0.080 | 14 | 23431425 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.080 | 14 | 23418249 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 12 | 2003 | 2017 | |||
|
3 | 0.882 | 0.080 | 14 | 23425774 | missense variant | A/G;T | snv | 0.700 | 1.000 | 10 | 2003 | 2015 | |||||
|
4 | 0.882 | 0.080 | 14 | 23429850 | missense variant | C/G;T | snv | 0.700 | 1.000 | 9 | 2003 | 2019 | |||||
|
4 | 0.882 | 0.080 | 14 | 23431789 | missense variant | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 8 | 2003 | 2017 |