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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 44311393 | stop gained | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 44311148 | missense variant | G/A | snv | 8.8E-05 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 44304659 | missense variant | G/A;C | snv | 3.6E-05; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.800 | 1.000 | 6 | 2011 | 2018 | |||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2011 | 2014 | |||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2011 | 2014 | |||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 6 | 44305072 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 6 | 44305072 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 6 | 44303177 | splice acceptor variant | T/C | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2011 | 2014 | ||||||||
|
1.000 | 6 | 44303177 | splice acceptor variant | T/C | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2011 | 2014 |