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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 9 | 99824951 | intron variant | C/T | snv | 8.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 7 | 99735325 | upstream gene variant | T/G | snv | 2.7E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 99445311 | intron variant | G/A | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.360 | 19 | 9834678 | splice region variant | C/T | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.732 | 0.360 | 19 | 9834503 | non coding transcript exon variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
1.000 | 0.080 | 10 | 97913426 | intron variant | T/C | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 |
|
0.020 | 1.000 | 2 | 2004 | 2007 | ||||||||
|
0.807 | 0.240 | 9 | 97675558 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.080 | 3 | 9765858 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.100 | 0.967 | 30 | 1999 | 2019 | |||||||
|
0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | |||||||
|
0.851 | 0.120 | 3 | 9750336 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.080 | 8 | 9679917 | non coding transcript exon variant | A/C;G | snv | 8.0E-06; 1.0E-01 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 5 | 9557490 | regulatory region variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 12 | 955272 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 4 | 94654530 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.240 | 4 | 94641726 | intron variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 11 | 94493959 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 14 | 93787688 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 7 | 92683489 | intron variant | G/C | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 13 | 91792975 | intron variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2010 | 2015 |