| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv |
|
0.770 | 1.000 | 8 | 1996 | 2019 | |||||||||
|
0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 |
|
0.750 | 1.000 | 6 | 2000 | 2018 | ||||||||
|
0.882 | 0.120 | 11 | 2778009 | missense variant | G/A | snv | 4.8E-05 | 5.6E-05 |
|
0.730 | 1.000 | 9 | 1999 | 2017 | |||||||
|
0.827 | 0.200 | 11 | 2571333 | missense variant | G/A | snv | 8.0E-06 | 3.5E-05 |
|
0.730 | 1.000 | 5 | 2008 | 2018 | |||||||
|
0.851 | 0.120 | 7 | 150952514 | missense variant | C/G;T | snv |
|
0.730 | 1.000 | 4 | 2001 | 2013 | |||||||||
|
0.851 | 0.120 | 11 | 2778003 | missense variant | C/T | snv |
|
0.720 | 0.917 | 11 | 1998 | 2019 | |||||||||
|
0.807 | 0.240 | 11 | 2768881 | stop gained | C/G;T | snv | 1.0E-04 |
|
0.720 | 1.000 | 7 | 1999 | 2015 | ||||||||
|
0.882 | 0.120 | 7 | 150951738 | missense variant | A/G | snv | 7.2E-05 | 5.6E-05 |
|
0.720 | 1.000 | 5 | 2000 | 2014 | |||||||
|
0.882 | 0.200 | 7 | 150951679 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 4 | 2000 | 2016 | |||||||||
|
0.925 | 0.120 | 7 | 150951615 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 0 | 1996 | 2005 | ||||||||
|
0.882 | 0.120 | 7 | 150951583 | missense variant | C/T | snv |
|
0.710 | 1.000 | 14 | 1999 | 2014 | |||||||||
|
0.807 | 0.120 | 11 | 2775984 | missense variant | C/T | snv | 7.0E-06 |
|
0.710 | 1.000 | 12 | 2000 | 2015 | ||||||||
|
0.925 | 0.120 | 11 | 2776006 | stop gained | C/A;T | snv |
|
0.710 | 1.000 | 12 | 2004 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 2572089 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 11 | 1996 | 2012 | |||||||||
|
0.807 | 0.120 | 21 | 34449409 | missense variant | C/T | snv | 6.8E-05 | 5.3E-05 |
|
0.710 | 1.000 | 11 | 1997 | 2014 | |||||||
|
0.807 | 0.320 | 12 | 2504944 | stop gained | G/A;T | snv |
|
0.710 | 1.000 | 11 | 2004 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 2583486 | missense variant | G/A | snv |
|
0.710 | 1.000 | 9 | 2009 | 2016 | |||||||||
|
0.882 | 0.120 | 11 | 2587630 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-04 |
|
0.710 | 1.000 | 9 | 2007 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 150974851 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 9 | 1999 | 2015 | |||||||||
|
0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 8 | 1995 | 2013 | |||||||||
|
0.925 | 0.120 | 7 | 150951793 | missense variant | G/A;T | snv |
|
0.710 | 1.000 | 8 | 1998 | 2019 | |||||||||
|
0.925 | 0.120 | 7 | 150951484 | missense variant | C/T | snv |
|
0.710 | 1.000 | 6 | 2002 | 2014 | |||||||||
|
0.925 | 0.120 | 11 | 2572862 | missense variant | T/C;G | snv |
|
0.710 | 0.857 | 6 | 1993 | 2012 | |||||||||
|
0.925 | 0.160 | 7 | 150948861 | stop gained | G/A | snv | 4.0E-06 |
|
0.710 | 0.800 | 5 | 2003 | 2012 | ||||||||
|
1.000 | 0.120 | 11 | 2776985 | splice acceptor variant | G/- | delins |
|
0.710 | 1.000 | 4 | 1999 | 2018 |