| 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 | 0.120 | 14 | 32625843 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 10 | 5049762 | intron variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 1.000 | 2 | 1997 | 1998 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.020 | 1.000 | 2 | 1997 | 1998 | |||||||
|
0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 5 | 112828864 | synonymous variant | G/A | snv | 0.65 | 0.59 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 17566321 | intron variant | A/C | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 22 | 50627048 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 22 | 50625459 | missense variant | C/A | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 13 | 51974004 | missense variant | A/C;T | snv | 0.44; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.320 | 13 | 51949672 | missense variant | C/T | snv | 0.57 | 0.56 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 16 | 342461 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |