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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | 7 | 124851908 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.160 | 15 | 27851420 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
4 | 0.925 | 0.160 | 15 | 27871170 | missense variant | G/A | snv | 1.1E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.160 | 15 | 27951867 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 15 | 27951891 | missense variant | T/A;C | snv | 4.0E-06; 4.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 15 | 27966798 | missense variant | C/T | snv | 5.6E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 15 | 27983392 | missense variant | C/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 15 | 27985173 | missense variant | G/A;C | snv | 2.2E-04; 8.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 15 | 27990583 | missense variant | A/G | snv | 8.7E-04 | 3.6E-03 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.160 | 15 | 27990644 | missense variant | C/T | snv | 1.5E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.160 | 15 | 28081769 | missense variant | G/A | snv | 8.2E-05 | 1.8E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.160 | 5 | 33944722 | missense variant | C/G;T | snv | 5.5E-04; 4.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.160 | 5 | 33944785 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 5 | 33963765 | missense variant | C/T | snv | 0.12 | 5.9E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.160 | 5 | 33984307 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.200 | 17 | 43097266 | missense variant | C/T | snv | 3.0E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.160 | 15 | 48121147 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.240 | 13 | 51937570 | missense variant | T/A;C | snv | 4.0E-06; 2.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.240 | 13 | 51958333 | missense variant | C/A;T | snv | 1.4E-04; 3.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.160 | 12 | 57750765 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 11 | 89178117 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1995 | 2015 | ||||
|
5 | 0.827 | 0.160 | 11 | 89178195 | missense variant | C/T | snv | 8.4E-05 | 1.7E-04 | 0.710 | 1.000 | 5 | 1990 | 2008 | |||
|
2 | 0.925 | 0.160 | 11 | 89178546 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |