| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 76625147 | intron variant | A/G | snv | 0.65 |
|
0.810 | 1.000 | 2 | 2010 | 2016 | ||||||||||
|
13 | 20189355 | missense variant | A/G | snv | 2.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
19 | 40856388 | intron variant | C/T | snv | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 121993482 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
6 | 85493984 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
14 | 76439579 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 178461239 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
21 | 42383169 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
6 | 33177678 | missense variant | C/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
13 | 20189542 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
13 | 20223085 | synonymous variant | C/T | snv | 1.8E-04 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
22 | 37983663 | missense variant | C/A;T | snv | 5.7E-04; 5.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 78111266 | stop gained | G/A | snv | 6.0E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
21 | 42736981 | intron variant | T/A;G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
7 | 116700032 | missense variant | A/G | snv | 1.6E-03 | 6.3E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
15 | 80881078 | missense variant | C/T | snv | 3.6E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2003 | 2003 | |||||||||
|
13 | 20223387 | stop gained | G/A | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 18726094 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
3 | 69879304 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
13 | 20189144 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 12 | 8932951 | synonymous variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||||
|
13 | 20189186 | synonymous variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
3 | 69879267 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 47839399 | missense variant | A/G | snv | 2.0E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
15 | 78109499 | stop gained | G/A | snv | 2.4E-05 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |