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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.160 | X | 154534419 | missense variant | G/A | snv | 2.6E-03 | 4.8E-04 | 0.720 | 1.000 | 2 | 1995 | 2014 | |||
|
2 | 0.925 | 0.120 | X | 154534125 | missense variant | C/A;T | snv | 5.5E-06; 4.9E-05 | 0.700 | 0 | |||||||
|
9 | 0.827 | 0.240 | 17 | 7586766 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154534556 | intron variant | G/C | snv | 4.6E-02 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | X | 154533025 | missense variant | A/G | snv | 5.3E-04 | 1.5E-03 | 0.700 | 0 | ||||||
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.080 | 0.875 | 8 | 1992 | 2014 | |||
|
5 | 0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 | 0.060 | 0.833 | 6 | 2005 | 2019 | ||||
|
4 | 0.851 | 0.120 | X | 154534495 | missense variant | C/T | snv | 4.4E-05 | 5.7E-05 | 0.030 | 1.000 | 3 | 2013 | 2017 | |||
|
2 | 0.925 | 0.160 | X | 154531643 | 3 prime UTR variant | C/T | snv | 0.63 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.120 | 8 | 90036907 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2004 | 2009 | |||||
|
3 | 0.882 | 0.120 | X | 154533122 | missense variant | C/T | snv | 2.2E-04 | 9.4E-05 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
2 | 0.925 | 0.160 | X | 154532439 | synonymous variant | A/G | snv | 0.020 | 1.000 | 2 | 2008 | 2017 | |||||
|
2 | 0.925 | 0.120 | X | 154532390 | missense variant | G/A | snv | 1.5E-04 | 1.5E-04 | 0.020 | 1.000 | 2 | 1993 | 2013 | |||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.120 | X | 154534400 | missense variant | G/C | snv | 4.7E-04 | 6.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | X | 154532293 | intron variant | G/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | X | 154535176 | missense variant | C/G | snv | 9.7E-04 | 8.5E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.160 | X | 154534440 | missense variant | T/A | snv | 1.4E-04 | 4.7E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.851 | 0.160 | X | 154536168 | missense variant | G/C | snv | 1.7E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 1995 | 1995 |