| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 |
|
0.700 | 1.000 | 12 | 1997 | 2017 | |||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 1.000 | 13 | 2012 | 2017 | |||||||
|
1.000 | 0.040 | 14 | 31850092 | non coding transcript exon variant | T/C | snv | 3.4E-03 | 3.4E-03 |
|
0.700 | 1.000 | 14 | 1999 | 2013 | |||||||
|
0.807 | 0.320 | 6 | 32039426 | missense variant | T/A | snv | 4.8E-04 | 1.2E-03 |
|
0.700 | 1.000 | 9 | 1998 | 2015 | |||||||
|
0.776 | 0.200 | 5 | 149980428 | missense variant | C/T | snv | 9.8E-04 | 1.0E-03 |
|
0.700 | 1.000 | 6 | 1996 | 2010 | |||||||
|
0.807 | 0.080 | 5 | 149026872 | stop gained | G/A | snv | 7.5E-04; 4.0E-06 | 6.6E-04 |
|
0.700 | 1.000 | 4 | 1997 | 2011 | |||||||
|
0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 1 | 40091398 | missense variant | T/A | snv | 7.0E-04 | 6.0E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 21 | 42389043 | frameshift variant | G/- | delins | 4.9E-04 | 5.7E-04 |
|
0.700 | 1.000 | 6 | 2003 | 2017 | |||||||
|
0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 |
|
0.700 | 1.000 | 13 | 2012 | 2017 | |||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.720 | 1.000 | 8 | 2004 | 2018 | |||||||
|
0.851 | 0.320 | 18 | 23536736 | missense variant | A/G | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 7 | 1997 | 2012 | |||||||
|
1.000 | 6 | 30915985 | missense variant | C/T | snv | 3.2E-05 | 1.0E-04 |
|
0.700 | 1.000 | 6 | 2011 | 2017 | ||||||||
|
1.000 | 0.120 | 15 | 72346552 | synonymous variant | G/A | snv | 8.0E-05 | 1.0E-04 |
|
0.700 | 1.000 | 11 | 1986 | 2011 | |||||||
|
1.000 | 1 | 152307855 | stop gained | G/C | snv | 4.7E-04 | 9.8E-05 |
|
0.700 | 1.000 | 6 | 1966 | 2013 | ||||||||
|
0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 |
|
0.700 | 1.000 | 7 | 1992 | 2016 | |||||||
|
0.925 | 0.120 | 5 | 140674776 | missense variant | T/G | snv | 2.0E-05 | 9.1E-05 |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||
|
0.925 | 0.080 | 19 | 12655693 | splice donor variant | C/G | snv | 9.3E-05 | 7.7E-05 |
|
0.700 | 1.000 | 6 | 1981 | 2015 | |||||||
|
0.882 | 0.160 | 1 | 45508848 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 |
|
0.700 | 1.000 | 7 | 2006 | 2015 | |||||||
|
0.925 | 8 | 144360604 | missense variant | T/C | snv | 7.0E-05 | 7.7E-05 |
|
0.700 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.882 | 0.120 | X | 154532990 | missense variant | C/A;T | snv | 5.5E-06; 1.9E-04 | 6.6E-05 |
|
0.700 | 1.000 | 5 | 1981 | 2008 | |||||||
|
7 | 66633320 | missense variant | A/G | snv | 5.6E-05 | 4.9E-05 |
|
0.700 | 1.000 | 10 | 2005 | 2016 | |||||||||
|
0.925 | 18 | 62143337 | missense variant | A/C | snv | 3.0E-05 | 4.9E-05 |
|
0.700 | 1.000 | 11 | 1999 | 2016 | ||||||||
|
1.000 | 19 | 49862188 | missense variant | C/A | snv | 4.2E-05 |
|
0.700 | 1.000 | 8 | 1982 | 2017 | |||||||||
|
1.000 | 8 | 1780408 | frameshift variant | C/- | delins | 4.0E-06 | 3.5E-05 |
|
0.700 | 1.000 | 3 | 2015 | 2017 |