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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | 13 | 23331656 | missense variant | C/G | snv | 0.800 | 1.000 | 15 | 2000 | 2016 | |||||
|
1 | 1.000 | 0.160 | 13 | 23338040 | missense variant | A/G | snv | 0.800 | 1.000 | 15 | 2000 | 2016 | |||||
|
1 | 1.000 | 0.160 | 13 | 23334134 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 15 | 2000 | 2016 | ||||
|
1 | 1.000 | 0.160 | 13 | 23340715 | missense variant | A/G | snv | 0.800 | 1.000 | 15 | 2000 | 2016 | |||||
|
1 | 1.000 | 0.160 | 13 | 23335483 | missense variant | G/C;T | snv | 8.0E-06; 1.6E-03 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 13 | 23355797 | missense variant | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 3 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.160 | 13 | 23332969 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 15 | 2000 | 2016 | |||
|
1 | 1.000 | 0.160 | 13 | 23332922 | missense variant | G/T | snv | 4.0E-05 | 6.3E-05 | 0.700 | 1.000 | 14 | 2000 | 2016 | |||
|
1 | 1.000 | 0.160 | 13 | 23332502 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2016 | ||||
|
2 | 0.925 | 0.160 | 13 | 23335032 | frameshift variant | A/- | del | 6.4E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2000 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 23330903 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2012 | ||||
|
2 | 0.925 | 0.160 | 13 | 23355798 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2013 | |||
|
1 | 1.000 | 0.160 | 13 | 23330471 | missense variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2011 | 2014 | |||||
|
1 | 1.000 | 0.160 | 13 | 23331022 | frameshift variant | CTCT/- | delins | 8.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.160 | 13 | 23330592 | stop gained | -/T | delins | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.160 | 13 | 23338751 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2013 | ||||
|
2 | 0.925 | 0.160 | 13 | 23339132 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 23355651 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 23337704 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 2 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.160 | 13 | 23332610 | frameshift variant | AT/- | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.160 | 13 | 23338157 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 23337467 | stop gained | G/A;C | snv | 3.2E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | |||
|
1 | 1.000 | 0.160 | 13 | 23336372 | stop gained | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2000 | 2001 | ||||
|
1 | 1.000 | 0.160 | 13 | 23334206 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.160 | 13 | 23353788 | stop gained | G/A;C | snv | 1.6E-05; 1.2E-05 | 0.700 | 1.000 | 2 | 2008 | 2013 |