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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 3 | 30674228 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 2005 | 2016 | |||||
|
4 | 0.851 | 0.240 | 3 | 30691478 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2005 | 2014 | |||||
|
4 | 0.882 | 0.120 | 3 | 30674186 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2006 | 2014 | |||||
|
5 | 0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv | 0.700 | 1.000 | 5 | 2004 | 2012 | |||||
|
4 | 0.882 | 0.120 | 3 | 30688476 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2017 | ||||
|
3 | 0.882 | 0.120 | 3 | 30691504 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2004 | 2011 | |||||
|
7 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2005 | 2012 | |||||
|
3 | 0.882 | 0.120 | 3 | 30674229 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2011 | ||||
|
1 | 1.000 | 3 | 30688383 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 4 | 2006 | 2010 | ||||||
|
1 | 1.000 | 3 | 30672361 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||||
|
1 | 1.000 | 3 | 30691459 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 0.925 | 0.120 | 3 | 30674196 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 30691426 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 30674109 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 30688433 | frameshift variant | CT/- | del | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.120 | 3 | 30688512 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 30691486 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 3 | 30672250 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 30674121 | missense variant | A/G;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 30691424 | frameshift variant | T/- | del | 0.700 | 0 |