| 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 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 |
|
0.040 | 0.750 | 4 | 2010 | 2018 | |||||||
|
1.000 | 0.040 | 11 | 4138534 | 3 prime UTR variant | A/T | snv | 0.88 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 30665559 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 15 | 90088650 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 13 | 28027222 | missense variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
0.925 | 0.040 | 13 | 28028244 | missense variant | T/G | snv |
|
0.710 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 16 | 50711322 | missense variant | C/T | snv | 1.5E-03 | 5.6E-04 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 1 | 76306643 | intron variant | T/C | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 32219436 | intron variant | G/A | snv | 7.7E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 21 | 38392384 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 9 | 113424228 | frameshift variant | -/G | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 13760080 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 2 | 233164391 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 13 | 28052566 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 19 | 33302132 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 3 | 14158631 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 57655971 | synonymous variant | T/C | snv | 0.76 | 0.79 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 7 | 124892377 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 9 | 5054778 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 9 | 5126715 | missense variant | A/G | snv | 2.0E-03 | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 208248486 | missense variant | T/C | snv | 3.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 13 | 102862707 | synonymous variant | A/C | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 5126768 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.040 | 21 | 34887018 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |