Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
5 | 1.000 | 5 | 139307669 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||||
|
6 | 0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.882 | 0.120 | 5 | 137870815 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.882 | 0.120 | 5 | 137870830 | missense variant | C/G;T | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.160 | 14 | 23429040 | missense variant | G/A | snv | 2.3E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
8 | 0.807 | 0.240 | 11 | 111908832 | missense variant | C/T | snv | 9.1E-04 | 8.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 1.000 | 7 | 128835550 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 19 | 50286566 | missense variant | C/T | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 7 | 128850448 | missense variant | T/G | snv | 9.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 2 | 178741618 | missense variant | C/A | snv | 1.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 2 | 178740904 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 7 | 128854900 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 1 | 229432295 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |