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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.030 | 1.000 | 3 | 2002 | 2005 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2008 | 2008 | |||||
|
7 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.925 | 0.360 | 8 | 85473779 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
4 | 0.882 | 0.240 | X | 111194402 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.925 | 0.200 | X | 111196570 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.200 | X | 54016662 | stop gained | T/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.200 | X | 119837771 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.200 | X | 100296654 | missense variant | C/T | snv | 1.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.280 | 3 | 142556117 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.200 | X | 30720721 | missense variant | A/G;T | snv | 5.4E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
2 | 1.000 | 0.200 | 8 | 116854423 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.200 | 7 | 87550272 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.200 | 7 | 87504324 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.200 | 9 | 131140671 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.200 | 10 | 86500266 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.851 | 0.240 | 15 | 89323504 | missense variant | C/A;T | snv | 8.0E-06; 9.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.200 | 19 | 14564841 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.200 | 7 | 41189487 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 1.000 | 0.200 | X | 154030643 | frameshift variant | TCGGGCTC/- | delins | 5.8E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.200 | X | 154030650 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
9 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
20 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 |