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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 0.710 | 1.000 | 6 | 2005 | 2013 | |||||
|
5 | 0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv | 0.700 | 1.000 | 6 | 2006 | 2016 | |||||
|
3 | 0.882 | 0.120 | 9 | 99149253 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.120 | 9 | 99142664 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2016 | |||
|
3 | 0.882 | 0.120 | 3 | 30672250 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2005 | 2013 | ||||
|
1 | 1.000 | 0.120 | 9 | 99137962 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 4 | 2008 | 2015 | |||||
|
1 | 1.000 | 0.120 | 3 | 30672235 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
4 | 0.851 | 0.240 | 3 | 30691478 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.120 | 3 | 30688482 | stop gained | G/T | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 3 | 30691475 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2006 | 2013 | |||||
|
1 | 1.000 | 0.120 | 3 | 30672085 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
4 | 0.882 | 0.120 | 9 | 99149252 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 3 | 30674232 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
18 | 0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 15 | 48488233 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 99144816 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 30672334 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 30691435 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 30650316 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 2 | 189008089 | missense variant | G/C | snv | 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 | 0.160 | 3 | 30691465 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 15 | 67181453 | stop gained | G/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 218434115 | stop gained | C/T | snv | 0.700 | 0 |