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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 7 | 150948981 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 15 | 2000 | 2016 | |||
|
6 | 0.807 | 0.120 | 21 | 34449409 | missense variant | C/T | snv | 6.8E-05 | 5.3E-05 | 0.700 | 1.000 | 15 | 1997 | 2015 | |||
|
4 | 0.851 | 0.120 | 11 | 2778024 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 1.000 | 11 | 2000 | 2014 | ||||
|
3 | 0.882 | 0.120 | 11 | 2571394 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 11 | 1999 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 150950312 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 9 | 2000 | 2018 | ||||
|
2 | 0.925 | 0.120 | 11 | 2570685 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 9 | 2000 | 2018 | ||||
|
3 | 0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv | 0.700 | 1.000 | 9 | 1997 | 2014 | |||||
|
20 | 0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 2005 | 2016 | |||
|
10 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2014 | ||||
|
4 | 0.851 | 0.120 | 11 | 2570720 | frameshift variant | GCGCT/- | delins | 1.4E-05 | 0.700 | 1.000 | 6 | 1999 | 2015 | ||||
|
5 | 0.827 | 0.120 | 7 | 150952508 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 5 | 2003 | 2017 | ||||
|
4 | 0.851 | 0.120 | 7 | 150951643 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 1999 | 2015 | ||||
|
5 | 0.827 | 0.200 | 11 | 2571333 | missense variant | G/A | snv | 8.0E-06 | 3.5E-05 | 0.700 | 1.000 | 4 | 2008 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 2570707 | missense variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 11 | 2662080 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 11 | 2570734 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2002 | 2009 | |||||
|
4 | 0.851 | 0.120 | 11 | 2572979 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.120 | 11 | 2527943 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 3 | 38560146 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 11 | 2768851 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 38620972 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.120 | 7 | 150952696 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 118141265 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.120 | 20 | 33410203 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 |