| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 17 | 43064004 | intron variant | G/A | snv | 1.9E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 43067643 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 43070958 | missense variant | C/T | snv | 1.8E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 17 | 43070984 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 17 | 43071031 | missense variant | A/G | snv | 1.5E-03 | 9.6E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 |
|
0.020 | 0.500 | 2 | 2014 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 43071164 | frameshift variant | CT/- | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 17 | 43074454 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 17 | 43074471 | missense variant | C/A | snv | 2.4E-03 | 2.4E-03 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.200 | 17 | 43076573 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.200 | 17 | 43076600 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 17 | 43082287 | intron variant | C/T | snv | 6.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 17 | 43082496 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2004 | 2010 | |||||||
|
0.851 | 0.200 | 17 | 43082503 | stop gained | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 17 | 43086602 | intron variant | C/T | snv | 2.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 17 | 43091030 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 17 | 43091520 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.080 | 17 | 43091792 | missense variant | C/T | snv | 9.6E-05 | 6.3E-05 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 17 | 43091811 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.080 | 17 | 43091951 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.080 | 17 | 43091982 | frameshift variant | TT/- | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 17 | 43091983 | missense variant | T/A;C | snv | 0.35 | 0.31 |
|
0.020 | 1.000 | 2 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 17 | 43092125 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.240 | 17 | 43092418 | missense variant | T/C;G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.080 | 17 | 43092674 | frameshift variant | AA/- | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 |