| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 7 | 150951643 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.710 | 1.000 | 3 | 2000 | 2019 | ||||||||
|
1.000 | 0.120 | 12 | 2593252 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 12 | 2566465 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2015 | 2019 | |||||||||
|
1.000 | 0.120 | 11 | 2528005 | frameshift variant | CT/- | delins |
|
0.710 | 1.000 | 0 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 11 | 2583453 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 0 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 11 | 2776032 | missense variant | C/A;T | snv | 1.1E-05; 1.1E-05 |
|
0.710 | 1.000 | 0 | 2005 | 2005 | ||||||||
|
0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv |
|
0.710 | 1.000 | 0 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | 7 | 150950311 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.710 | 1.000 | 0 | 2003 | 2003 | |||||||
|
0.882 | 0.120 | 7 | 150950336 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06 |
|
0.710 | 1.000 | 0 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 11 | 2572970 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 11 | 2572895 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 0 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 11 | 2585225 | stop gained | C/A;G | snv |
|
0.710 | 1.000 | 0 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 7 | 150951702 | missense variant | A/G;T | snv |
|
0.710 | 1.000 | 0 | 2000 | 2000 | |||||||||
|
0.925 | 0.120 | 7 | 150951562 | missense variant | A/C;G | snv |
|
0.710 | 1.000 | 0 | 2005 | 2005 | |||||||||
|
0.925 | 0.120 | 11 | 2768888 | missense variant | T/G | snv |
|
0.710 | 1.000 | 0 | 2007 | 2007 | |||||||||
|
0.882 | 0.120 | 3 | 38562467 | missense variant | G/A | snv | 1.8E-04 | 2.1E-04 |
|
0.710 | 1.000 | 0 | 2007 | 2007 | |||||||
|
0.882 | 0.120 | 7 | 150958449 | missense variant | G/A;C | snv | 3.2E-04 |
|
0.710 | 1.000 | 0 | 2006 | 2006 | ||||||||
|
0.925 | 0.120 | 7 | 150950167 | splice donor variant | C/A;G | snv |
|
0.710 | 1.000 | 0 | 2008 | 2008 | |||||||||
|
0.882 | 0.120 | 7 | 150951552 | missense variant | G/A | snv |
|
0.700 | 1.000 | 30 | 1997 | 2015 | |||||||||
|
0.851 | 0.120 | 11 | 2778024 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 1.000 | 16 | 2000 | 2014 | ||||||||
|
0.882 | 0.120 | 11 | 2571394 | missense variant | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 15 | 1999 | 2015 | ||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 14 | 2000 | 2011 | |||||||||
|
0.882 | 0.120 | 7 | 150951507 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 14 | 1998 | 2016 | |||||||||
|
0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 13 | 1997 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 150974920 | missense variant | T/G | snv |
|
0.700 | 1.000 | 13 | 1999 | 2017 |