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 | 20 | 63444765 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||||
|
1 | 9 | 135768856 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||||
|
1 | 12 | 51699581 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 63444805 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 9 | 4557296 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 10 | 74683339 | intron variant | A/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 9 | 84919243 | intron variant | G/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 1213792 | missense variant | G/A;C | snv | 3.7E-04; 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 9 | 84944879 | intron variant | C/T | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 2079171 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1 | X | 154030753 | missense variant | A/G | snv | 8.3E-05 | 4.8E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1 | 183208049 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 20 | 63408469 | missense variant | C/A;G;T | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 113282730 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 166013842 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 4 | 127938782 | splice donor variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | X | 153688666 | missense variant | C/A;G;T | snv | 1.6E-05; 3.3E-05 | 3.9E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 15 | 89333346 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 22 | 31821593 | frameshift variant | CT/- | delins | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 126595148 | frameshift variant | -/T | delins | 6.0E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 166012262 | frameshift variant | AATA/- | del | 0.700 | 0 | ||||||||||
|
1 | 4 | 127939999 | splice acceptor variant | T/A | snv | 0.700 | 0 | ||||||||||
|
1 | 16 | 31001195 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 20 | 63439686 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 22 | 31897565 | stop gained | C/G | snv | 0.700 | 0 |