| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 9 | 21971117 | missense variant | G/A;C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.080 | 4 | 71777771 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 2 | 222202072 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 4 | 109963240 | synonymous variant | A/G | snv | 9.7E-03 | 1.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 3 | 69941240 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 16 | 4681743 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 1 | 199936700 | intergenic variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.240 | 4 | 1806076 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.160 | 7 | 140924673 | missense variant | C/T | snv | 9.3E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 175093177 | frameshift variant | -/G | ins |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 16 | 89919597 | synonymous variant | G/A | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.120 | 1 | 25385838 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 17 | 39724828 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 11 | 69167951 | intron variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |