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 | 0.120 | 11 | 62692385 | frameshift variant | AAGTGCGCGTG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 9 | 136676681 | splice acceptor variant | C/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 9 | 136677440 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
13 | 0.752 | 0.200 | 11 | 62702493 | missense variant | G/A;C | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2010 | ||||
|
5 | 0.851 | 0.240 | 11 | 62692671 | stop gained | C/A | snv | 2.0E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2007 | 2009 | |||
|
2 | 0.925 | 0.120 | 7 | 116526606 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.160 | 1 | 40285988 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
10 | 0.752 | 0.240 | 11 | 62702499 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.882 | 0.160 | 1 | 156130666 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.200 | 1 | 156136939 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.851 | 0.240 | 9 | 136677540 | missense variant | C/A;G;T | snv | 4.1E-06; 8.1E-06; 1.5E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.240 | 11 | 17387629 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
7 | 0.827 | 0.360 | 19 | 11110752 | frameshift variant | G/- | delins | 0.010 | 1.000 | 1 | 2014 | 2014 |