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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.820 | 1.000 | 2 | 2006 | 2018 | |||||||||
|
1.000 | 0.080 | 1 | 9715706 | missense variant | G/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 9720852 | frameshift variant | GGCGCTAGCCCGGC/- | del | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 1 | 9722244 | splice region variant | C/T | snv | 5.8E-04 | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 1 | 9722067 | synonymous variant | C/T | snv | 4.4E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.200 | 1 | 9720653 | missense variant | G/A | snv | 6.3E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 1 | 9718800 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 1 | 9724850 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 1 | 9724850 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 1 | 9724850 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.160 | 1 | 9720755 | missense variant | G/A | snv | 8.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 9716029 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 1 | 9716029 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 1 | 9716029 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 1 | 9716029 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 1 | 9720853 | missense variant | G/A | snv | 8.3E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
1 | 9720754 | missense variant | C/T | snv | 3.3E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 1 | 9717609 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 9717609 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 9715556 | missense variant | G/A | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |