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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 14 | 64767686 | frameshift variant | -/AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 158644315 | synonymous variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 64782493 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
9 | 0.790 | 0.200 | 17 | 44253327 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 17 | 44253150 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2003 | 2009 | |||
|
1 | 1.000 | 0.080 | 8 | 41688541 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.080 | 19 | 34394044 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 19 | 34393927 | missense variant | G/A;T | snv | 2.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 44261630 | missense variant | T/A;G | snv | 1.2E-05; 3.4E-02 | 0.020 | 1.000 | 2 | 1997 | 2018 |