| 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 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.810 | 1.000 | 0 | 2014 | 2014 | ||||||||
|
0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv |
|
0.800 | 0 | ||||||||||||
|
0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.780 | 1.000 | 0 | 2002 | 2013 | |||||||
|
0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 |
|
0.780 | 0.875 | 0 | 1998 | 2016 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.770 | 1.000 | 0 | 2008 | 2019 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.750 | 1.000 | 0 | 2011 | 2018 | ||||||||
|
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 | ||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.730 | 1.000 | 0 | 2014 | 2019 | |||||||||
|
0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 |
|
0.730 | 1.000 | 0 | 2003 | 2017 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.720 | 1.000 | 0 | 2012 | 2015 | ||||||||
|
0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.720 | 0.500 | 0 | 2012 | 2016 | |||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.720 | 1.000 | 0 | 1998 | 1999 | |||||||
|
0.925 | 0.080 | 14 | 67766404 | missense variant | C/T | snv | 8.8E-05 | 9.1E-05 |
|
0.720 | 1.000 | 0 | 2011 | 2011 | |||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.710 | < 0.001 | 0 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv |
|
0.710 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 2020 | 2020 | ||||||||
|
0.882 | 0.280 | 11 | 108312424 | stop gained | G/T | snv | 4.4E-05 | 3.5E-05 |
|
0.710 | 1.000 | 0 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 16 | 23641140 | synonymous variant | C/A;T | snv |
|
0.710 | 1.000 | 0 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 2 | 47799002 | missense variant | T/C | snv | 3.6E-05 | 5.6E-05 |
|
0.710 | 1.000 | 0 | 2000 | 2000 | |||||||
|
0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 |
|
0.710 | 1.000 | 0 | 2016 | 2016 | |||||||
|
0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 |
|
0.710 | 1.000 | 0 | 2003 | 2003 | ||||||||
|
0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv |
|
0.710 | 1.000 | 0 | 2007 | 2007 | |||||||||
|
0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 2008 | 2008 | ||||||||
|
0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 |
|
0.710 | 1.000 | 0 | 2017 | 2017 | ||||||||
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
0.710 | < 0.001 | 0 | 2019 | 2019 |