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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 16 | 2046383 | intron variant | G/A | snv | 2.7E-03 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 16 | 2046383 | intron variant | G/A | snv | 2.7E-03 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 16 | 2046383 | intron variant | G/A | snv | 2.7E-03 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
16 | 2047157 | non coding transcript exon variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 2047157 | non coding transcript exon variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.120 | 16 | 2048658 | frameshift variant | T/-;TT | delins |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.120 | 16 | 2048750 | splice donor variant | AGAG/-;AG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 2048747 | frameshift variant | CTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 16 | 2048649 | stop gained | A/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 2088504 | missense variant | A/C;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 20 | 1996 | 2017 | ||||||||
|
1.000 | 0.120 | 16 | 2088533 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 |
|
0.700 | 1.000 | 20 | 1996 | 2017 | ||||||||
|
1.000 | 0.120 | 16 | 2088314 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 16 | 1996 | 2005 |