| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.120 | 19 | 54982828 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.120 | 16 | 30121998 | missense variant | T/C | snv | 5.6E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 3 | 128084115 | non coding transcript exon variant | A/G | snv | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 8 | 128521400 | intron variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 19 | 8977341 | missense variant | T/A;C;G | snv | 2.0E-05; 4.0E-06; 0.74 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 10 | 82191935 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 14 | 68694457 | non coding transcript exon variant | T/C | snv | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 9 | 136902178 | non coding transcript exon variant | G/A | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 4 | 119028805 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 7 | 27185939 | non coding transcript exon variant | A/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 22 | 28696732 | intron variant | C/T | snv | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 13 | 93224864 | upstream gene variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 22 | 28734470 | synonymous variant | T/C | snv | 3.6E-02 | 4.0E-02 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.851 | 0.120 | 4 | 13607505 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 1 | 110018293 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | 4 | 79376097 | intergenic variant | T/C | snv | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 14 | 32706736 | intron variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 30754766 | intron variant | C/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 50674920 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.120 | 17 | 61758503 | intron variant | T/G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 14 | 20395890 | synonymous variant | A/G | snv | 4.7E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 19 | 7150407 | intron variant | C/G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 1 | 17566321 | intron variant | A/C | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 17 | 7689462 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |