| 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 | 0.040 | 16 | 3256464 | missense variant | G/A;T | snv | 3.1E-04; 8.0E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 3256338 | missense variant | C/G;T | snv | 8.0E-06; 1.1E-04 |
|
0.700 | 1.000 | 6 | 2008 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 3256310 | splice donor variant | C/A;T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | |||||||
|
1.000 | 0.040 | 16 | 3254779 | stop gained | G/A;C;T | snv | 2.4E-05; 4.1E-06; 5.7E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 16 | 3254746 | missense variant | T/C;G | snv | 8.1E-06; 8.1E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.827 | 0.200 | 16 | 3254739 | missense variant | A/G | snv | 6.6E-03 | 2.2E-03 |
|
0.730 | 1.000 | 3 | 2008 | 2013 | |||||||
|
0.925 | 0.080 | 16 | 3254658 | frameshift variant | C/- | delins |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 0.040 | 16 | 3254632 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.800 | 0.972 | 36 | 1999 | 2020 | ||||||||
|
1.000 | 0.040 | 16 | 3254625 | missense variant | T/A;G | snv | 7.7E-05; 4.3E-06 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 3254580 | missense variant | T/C;G | snv | 4.9E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 3254567 | missense variant | C/G | snv | 4.4E-05 | 3.5E-05 |
|
0.800 | 0 | ||||||||||
|
1.000 | 0.040 | 16 | 3254538 | missense variant | G/A | snv | 1.3E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 |
|
0.080 | 1.000 | 8 | 2007 | 2019 | |||||||
|
0.882 | 0.160 | 16 | 3254380 | missense variant | C/G;T | snv | 6.3E-04 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.925 | 0.080 | 16 | 3254268 | missense variant | G/A | snv | 1.6E-04 | 1.1E-04 |
|
0.810 | 1.000 | 3 | 2010 | 2015 | |||||||
|
1.000 | 0.040 | 16 | 3254158 | missense variant | C/T | snv | 4.6E-03 | 3.2E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 16 | 3249736 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||
|
1.000 | 0.040 | 16 | 3249609 | missense variant | C/G | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.320 | 16 | 3249586 | missense variant | G/A;T | snv | 1.5E-02; 4.0E-05 |
|
0.860 | 1.000 | 9 | 2008 | 2017 | ||||||||
|
0.925 | 0.080 | 16 | 3249468 | missense variant | C/A;T | snv | 1.6E-05; 1.3E-02 |
|
0.840 | 1.000 | 6 | 1999 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 3248950 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 3247183 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.851 | 0.120 | 16 | 3247171 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.200 | 16 | 3247166 | missense variant | G/C;T | snv | 4.0E-05; 1.2E-05 |
|
0.800 | 1.000 | 9 | 1998 | 2015 |