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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.200 | 11 | 89227816 | splice region variant | T/A;C | snv | 9.5E-04; 8.0E-06 | 0.700 | 1.000 | 13 | 1997 | 2017 | ||||
|
8 | 0.827 | 0.160 | 11 | 89191214 | stop gained | C/A;T | snv | 1.9E-04 | 0.730 | 0.909 | 11 | 1993 | 2016 | ||||
|
5 | 0.851 | 0.160 | 11 | 89178117 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1995 | 2015 | ||||
|
8 | 0.790 | 0.160 | 11 | 89191205 | missense variant | G/A;T | snv | 8.0E-06; 9.2E-05 | 0.700 | 1.000 | 3 | 1991 | 2008 | ||||
|
2 | 0.925 | 0.160 | 11 | 89178603 | missense variant | G/A;C;T | snv | 2.6E-04; 1.2E-05 | 0.700 | 1.000 | 3 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.160 | 10 | 98425641 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
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 | ||||
|
1 | 1.000 | 0.160 | 15 | 48121147 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.160 | 5 | 33944785 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
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 | ||||
|
13 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | ||||
|
2 | 0.925 | 0.200 | 10 | 98420153 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.200 | 10 | 98417664 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.160 | 11 | 89284880 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | 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 | 16 | 89919778 | missense variant | G/A;C | snv | 8.6E-05; 8.2E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 | 11 | 89227896 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
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 | |||
|
1 | 1.000 | 0.160 | 8 | 99136683 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 12 | 57750765 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 11 | 89284843 | missense variant | G/A | snv | 6.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.160 | 8 | 99121366 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |