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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.740 | 0.875 | 8 | 2013 | 2017 | |||
|
17 | 0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 13 | 32337423 | frameshift variant | ACAT/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32370999 | frameshift variant | AA/-;AAA | delins | 0.700 | 0 | ||||||||
|
14 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 13 | 32362574 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32340837 | frameshift variant | ACAA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.100 | 0.923 | 13 | 2000 | 2017 | |||
|
2 | 0.925 | 0.080 | 13 | 32336705 | missense variant | A/G | snv | 2.3E-04 | 1.7E-04 | 0.030 | 1.000 | 3 | 2003 | 2017 | |||
|
4 | 0.925 | 0.080 | 13 | 32340099 | missense variant | C/T | snv | 1.8E-02 | 1.8E-02 | 0.030 | 1.000 | 3 | 2005 | 2019 | |||
|
5 | 0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 | 0.030 | 1.000 | 3 | 2003 | 2017 | ||||
|
2 | 0.925 | 0.080 | 13 | 32316486 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2009 | ||||
|
6 | 0.827 | 0.120 | 13 | 32340327 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.080 | 13 | 32356514 | missense variant | G/A | snv | 1.6E-04 | 3.5E-05 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 13 | 32337468 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.080 | 13 | 32356462 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
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 | |||
|
2 | 0.925 | 0.080 | 13 | 32332437 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.080 | 13 | 32398875 | 3 prime UTR variant | A/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.080 | 13 | 32337326 | missense variant | A/G | snv | 5.4E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.080 | 13 | 32355095 | synonymous variant | A/G;T | snv | 0.23; 8.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 13 | 32398747 | missense variant | A/G | snv | 2.3E-02 | 3.8E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 13 | 32332843 | synonymous variant | A/G | snv | 5.2E-02 | 3.8E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 |