| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
0.900 | 0.900 | 20 | 2010 | 2020 | ||||||||
|
0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.882 | 0.120 | 16 | 67940230 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 16 | 67940017 | missense variant | T/C | snv | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 22 | 22158022 | intron variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 12 | 101753399 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 8 | 41694003 | frameshift variant | TGGAACTTCCGGCGCCGGGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.080 | 11 | 5226943 | stop gained | C/A;G;T | snv | 2.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 16 | 173581 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 1 | 155235003 | missense variant | G/A | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 1 | 155239655 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 |
|
0.070 | 0.857 | 7 | 2011 | 2018 | |||||||
|
0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 |
|
0.040 | 1.000 | 4 | 2013 | 2020 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.040 | 1.000 | 4 | 2006 | 2015 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 1997 | 2018 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.030 | 1.000 | 3 | 2009 | 2018 | |||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.030 | 1.000 | 3 | 2007 | 2010 | ||||||||
|
0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 |
|
0.030 | 0.333 | 3 | 2015 | 2017 | ||||||||
|
0.776 | 0.120 | X | 48792337 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2000 | 2012 | |||||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.020 | 1.000 | 2 | 2012 | 2020 |