| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.320 | 1 | 97699535 | missense variant | T/C | snv | 8.5E-02 | 8.1E-02 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
6 | 0.807 | 0.240 | 1 | 97305364 | missense variant | C/T | snv | 4.7E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.160 | 1 | 97515865 | missense variant | C/T | snv | 1.5E-02 | 1.4E-02 | 0.020 | 0.500 | 2 | 2007 | 2015 | |||
|
3 | 0.925 | 0.080 | 1 | 97828160 | missense variant | T/C | snv | 3.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 97883353 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 97573759 | splice donor variant | C/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 1.000 | 0.080 | 1 | 97515785 | stop gained | G/A | snv | 8.0E-06 | 3.5E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 1.000 | 0.080 | 1 | 97699474 | missense variant | T/C | snv | 1.7E-03 | 6.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 97515766 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 97828139 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 97699370 | stop gained | C/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 97593304 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.080 | 1 | 97691776 | missense variant | G/A | snv | 8.0E-05 | 3.5E-05 | 0.710 | 1.000 | 1 | 1997 | 1997 | |||
|
1 | 1.000 | 0.080 | 1 | 97193112 | frameshift variant | T/- | del | 3.6E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 97593236 | frameshift variant | AT/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 1 | 97450114 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 97373561 | frameshift variant | TGCCCACAGGCCAGGC/- | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 97721672 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97450101 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 97883262 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97234956 | frameshift variant | AGGT/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97549566 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97450133 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97595167 | splice acceptor variant | C/G | snv | 0.700 | 0 |