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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 116786072 | intron variant | C/A | snv | 0.92 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116779922 | intron variant | C/T | snv | 9.8E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 116778419 | 3 prime UTR variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 116778419 | 3 prime UTR variant | G/A | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 116778419 | 3 prime UTR variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 11 | 116790814 | stop gained | G/A | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 11 | 116790814 | stop gained | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 116787315 | non coding transcript exon variant | T/G | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116787315 | non coding transcript exon variant | T/G | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116787315 | non coding transcript exon variant | T/G | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116787315 | non coding transcript exon variant | T/G | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
11 | 116790285 | missense variant | G/A | snv | 5.9E-04 | 5.0E-04 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||||
|
11 | 116790406 | stop gained | G/A;C | snv | 4.1E-05; 8.1E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
11 | 116779402 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 11 | 116790940 | stop gained | G/A;T | snv | 8.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |