| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 6 | 81483392 | intergenic variant | T/C | snv | 0.19 |
|
0.730 | 1.000 | 2 | 2012 | 2020 | ||||||||
|
0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 |
|
0.770 | 1.000 | 2 | 2010 | 2020 | ||||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 2020 | 2020 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.740 | 1.000 | 0 | 2011 | 2020 | ||||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
0.730 | 1.000 | 20 | 1994 | 2019 | ||||||||
|
0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 |
|
0.710 | 1.000 | 18 | 2002 | 2019 | |||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.800 | 0.950 | 8 | 2007 | 2019 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.870 | 1.000 | 5 | 2004 | 2019 | ||||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.750 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 |
|
0.710 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.760 | 1.000 | 1 | 2006 | 2019 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2006 | 2019 | ||||||||
|
0.925 | 0.080 | 16 | 52601088 | intron variant | C/T | snv | 0.19 |
|
0.720 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 |
|
0.720 | 1.000 | 1 | 2013 | 2019 | |||||||
|
0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 |
|
0.720 | 1.000 | 1 | 2010 | 2019 | |||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.800 | 0.971 | 1 | 2007 | 2019 | ||||||||
|
0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv |
|
0.710 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.925 | 0.080 | 16 | 52500255 | intron variant | T/C | snv | 0.61 |
|
0.770 | 0.875 | 1 | 2007 | 2019 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.770 | 1.000 | 0 | 2008 | 2019 | ||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.730 | 1.000 | 0 | 2014 | 2019 | |||||||||
|
1.000 | 0.080 | 16 | 23641140 | synonymous variant | C/A;T | snv |
|
0.710 | 1.000 | 0 | 2019 | 2019 | |||||||||
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
0.710 | < 0.001 | 0 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 13 | 32319100 | missense variant | T/C;G | snv |
|
0.710 | 1.000 | 0 | 2019 | 2019 |