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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 20 | 4699738 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.925 | 0.120 | 20 | 4699898 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.120 | 20 | 4699612 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 20 | 4699797 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.160 | 20 | 4699855 | missense variant | A/C | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 20 | 4699821 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 4699816 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.120 | 20 | 4699827 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.120 | 20 | 4699783 | missense variant | C/G;T | snv | 3.2E-05; 4.0E-05 | 0.020 | 1.000 | 2 | 2002 | 2010 | ||||
|
4 | 0.925 | 0.120 | 20 | 4699824 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2011 | |||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.030 | 1.000 | 3 | 2000 | 2015 | |||
|
2 | 1.000 | 0.080 | 20 | 4699600 | missense variant | G/T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2017 | 2020 | ||||
|
1 | 20 | 4684616 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.120 | 20 | 4696446 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 20 | 4699870 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 20 | 4699843 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 20 | 4699698 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.160 | 20 | 4699767 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||
|
8 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 0.720 | 1.000 | 2 | 1993 | 1999 | |||||
|
6 | 0.827 | 0.160 | 20 | 4699813 | missense variant | T/C | snv | 0.720 | 0.500 | 2 | 1996 | 2016 | |||||
|
15 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.720 | 1.000 | 2 | 2011 | 2015 |