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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.060 | 1.000 | 6 | 2002 | 2017 | |||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.050 | 1.000 | 5 | 2015 | 2018 | |||
|
5 | 0.882 | 0.080 | 13 | 32337326 | missense variant | A/G | snv | 5.4E-02 | 4.5E-02 | 0.020 | 0.500 | 2 | 2008 | 2016 | |||
|
5 | 0.882 | 0.200 | 13 | 32326591 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 13 | 32332560 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
7 | 0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
5 | 0.925 | 0.080 | 13 | 32316435 | 5 prime UTR variant | G/A;C;T | snv | 0.25 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
8 | 0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.160 | 13 | 32319134 | missense variant | A/G | snv | 1.6E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.925 | 0.080 | 13 | 32340099 | missense variant | C/T | snv | 1.8E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.925 | 0.080 | 13 | 32339451 | missense variant | A/G | snv | 2.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.882 | 0.200 | 13 | 32363445 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 13 | 32394703 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.200 | 13 | 32316461 | start lost | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.882 | 0.200 | 13 | 32337325 | frameshift variant | AACAAATGGGCAG/- | delins | 0.010 | 1.000 | 1 | 2008 | 2008 |