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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 1 | 94021934 | missense variant | A/G | snv | 1.2E-03 | 1.3E-03 |
|
0.700 | 1.000 | 2 | 1997 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 |
|
0.700 | 1.000 | 2 | 2005 | 2016 | |||||||
|
0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 2 | 1997 | 2019 | ||||||||
|
1 | 94007707 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 197427454 | missense variant | A/G;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 1 | 94005490 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 94042790 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 94060712 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1 | 197435404 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
1 | 68448644 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
1.000 | 1 | 94098904 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 1 | 94078611 | missense variant | G/C | snv | 8.0E-06 | 8.3E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 94062710 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.710 | 1.000 | 1 | 1999 | 2014 | |||||||
|
0.925 | 0.080 | 1 | 94046922 | missense variant | G/A;T | snv | 2.0E-05; 3.6E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 1 | 94031027 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 1 | 94030991 | splice region variant | C/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.080 | 1 | 94001911 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.925 | 0.120 | 1 | 94000870 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.925 | 0.080 | 1 | 68449890 | splice region variant | C/T | snv | 7.6E-05 | 1.4E-04 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.827 | 0.080 | 1 | 94005500 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.925 | 0.040 | 1 | 94007722 | frameshift variant | C/- | del | 2.8E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2000 | 2000 |