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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.800 | 0.846 | 13 | 2002 | 2018 | ||||
|
7 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 16 | 50728860 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.100 | 0.900 | 10 | 2002 | 2015 | |||
|
9 | 0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.050 | 1.000 | 5 | 2004 | 2017 | |||
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 0.750 | 4 | 2008 | 2019 | ||||
|
15 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.040 | 0.750 | 4 | 2002 | 2014 | ||||
|
18 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||
|
5 | 0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 16 | 50716670 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.040 | 16 | 50716670 | frameshift variant | C/- | del | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.040 | 16 | 50711664 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 16 | 50697279 | synonymous variant | G/A | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.925 | 0.040 | 16 | 50711288 | synonymous variant | C/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 16 | 50711892 | missense variant | G/C | snv | 8.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 16 | 50712177 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.040 | 16 | 50723350 | missense variant | A/C;G | snv | 1.7E-04; 4.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 16 | 50712085 | missense variant | C/G | snv | 3.2E-03 | 1.3E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.882 | 0.080 | 16 | 50712383 | 3 prime UTR variant | A/C | snv | 1.3E-02 | 1.4E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 16 | 50711546 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |