| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 5 | 1299910 | upstream gene variant | G/T | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 3 | 52227452 | intron variant | T/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 9151743 | mature miRNA variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 1 | 228347383 | intron variant | C/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 17 | 7260404 | synonymous variant | A/C;G | snv | 4.1E-02; 8.0E-06; 4.0E-06 | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 4 | 186081871 | non coding transcript exon variant | C/G | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 6 | 52188399 | intron variant | A/T | snv | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 122260382 | intron variant | G/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 99323064 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 16 | 16007895 | missense variant | G/C | snv | 2.0E-05 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 4 | 99317955 | non coding transcript exon variant | A/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 16 | 16007985 | missense variant | C/T | snv | 4.4E-04 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 1 | 206716793 | intron variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 7260420 | missense variant | A/G | snv | 0.65 | 0.70 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 4 | 102612664 | intron variant | T/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 3 | 122282024 | intron variant | C/T | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 15 | 90868426 | upstream gene variant | C/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.080 | 19 | 45818249 | intron variant | A/G | snv | 1.9E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 47798999 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 7 | 5992023 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 4 | 148827842 | intron variant | T/C | snv | 0.13 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 36993663 | stop gained | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |