| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 1 | 45331676 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2009 | ||||||||
|
0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 4 | 2005 | 2010 | |||||||
|
0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 47410334 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | |||||||
|
0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2005 | 2009 | ||||||||
|
0.776 | 0.080 | 20 | 48723580 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 47403229 | missense variant | G/A;T | snv | 1.4E-05 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | ||||||||
|
1.000 | 0.080 | 2 | 47475121 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | ||||||||
|
0.882 | 0.160 | 2 | 47429920 | stop gained | C/A;G;T | snv | 5.5E-04; 4.0E-06 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | ||||||||
|
0.925 | 0.160 | 2 | 47466663 | missense variant | G/T | snv |
|
0.700 | 1.000 | 4 | 1998 | 2005 | |||||||||
|
0.925 | 0.160 | 2 | 47410232 | missense variant | A/G | snv | 4.7E-04 | 1.3E-04 |
|
0.700 | 1.000 | 4 | 1998 | 2005 | |||||||
|
0.776 | 0.080 | 17 | 10803924 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 10 | 99591947 | intergenic variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 3 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2004 | 2005 | |||||||
|
0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2005 | |||||||||
|
0.776 | 0.080 | 6 | 35601785 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 20 | 62357358 | intron variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 15 | 32864185 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 20 | 50440951 | intergenic variant | C/T | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 14 | 53952388 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.790 | 0.080 | 3 | 40883471 | intergenic variant | T/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.776 | 0.080 | 3 | 40873748 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |