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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.900 | 1.000 | 0 | 2006 | 2019 | ||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.800 | 1.000 | 4 | 2006 | 2018 | ||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.740 | 1.000 | 11 | 2006 | 2013 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 7 | 2006 | 2016 | ||||||||
|
1.000 | 1 | 152307855 | stop gained | G/C | snv | 4.7E-04 | 9.8E-05 |
|
0.700 | 1.000 | 6 | 1966 | 2013 | ||||||||
|
1.000 | 1 | 152307855 | stop gained | G/C | snv | 4.7E-04 | 9.8E-05 |
|
0.700 | 1.000 | 6 | 1966 | 2013 | ||||||||
|
1.000 | 1 | 152307855 | stop gained | G/C | snv | 4.7E-04 | 9.8E-05 |
|
0.700 | 1.000 | 6 | 1966 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 152312743 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 2006 | 2012 | |||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 1.000 | 4 | 2006 | 2006 | ||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 1.000 | 4 | 2006 | 2006 | ||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 1.000 | 4 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 1 | 152309169 | stop gained | G/A;T | snv | 8.0E-06; 1.6E-03 |
|
0.700 | 1.000 | 2 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 1 | 152307697 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 1 | 152310981 | stop gained | G/A;T | snv | 2.4E-05; 1.2E-04 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 1 | 152304999 | stop gained | G/T | snv | 3.2E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 1 | 152313983 | frameshift variant | TCCTG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 152315363 | stop gained | C/A | snv | 1.2E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 1 | 152312410 | stop gained | G/A;C | snv | 6.0E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 1 | 152314399 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 0 |