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 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||
|
14 | 0.776 | 0.440 | 6 | 24777296 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.200 | 1 | 156135274 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.050 | 1.000 | 5 | 2000 | 2018 | |||||
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2010 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 0.500 | 2 | 2009 | 2014 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 0.500 | 2 | 2009 | 2014 | |||||
|
8 | 0.776 | 0.200 | 1 | 156137204 | missense variant | G/A;C | snv | 4.1E-05 | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
6 | 0.851 | 0.160 | 11 | 62691300 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
7 | 0.790 | 0.160 | 1 | 12009641 | missense variant | C/T | snv | 2.5E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 1 | 156136374 | missense variant | G/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 156136075 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 18 | 3520557 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 6 | 152104447 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.240 | 1 | 156136419 | missense variant | C/T | snv | 9.9E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
35 | 0.641 | 0.600 | 14 | 64233098 | 3 prime UTR variant | C/T | snv | 0.31 | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.120 | 1 | 156138540 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
4 | 0.851 | 0.200 | 1 | 156137203 | missense variant | C/T | snv | 1.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 14 | 64269942 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.925 | 0.080 | 3 | 12416836 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.160 | 3 | 12433900 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |