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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.160 | 14 | 81143407 | missense variant | G/A;T | snv | 2.3E-04 | 0.740 | 1.000 | 17 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 14 | 81092608 | splice donor variant | TG/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 14 | 81143649 | missense variant | C/G;T | snv | 4.0E-06; 2.8E-05 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
|
13 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 0.020 | 1.000 | 2 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 14 | 81143695 | stop gained | G/A | snv | 1.1E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.120 | 14 | 81143638 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 14 | 81139719 | missense variant | G/A | snv | 8.7E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 14 | 80955780 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 14 | 81144124 | missense variant | T/G | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.120 | 14 | 81143883 | stop gained | C/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 14 | 81143640 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |