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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.080 | 4 | 54285926 | missense variant | A/T | snv | 0.800 | 0.952 | 21 | 2003 | 2018 | |||||
|
6 | 0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv | 0.850 | 1.000 | 16 | 1998 | 2017 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 11 | 2008 | 2019 | |||||
|
2 | 1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv | 0.730 | 0.900 | 10 | 2005 | 2019 | |||||
|
5 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 1992 | 2013 | |||||
|
5 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 0.700 | 1.000 | 9 | 2003 | 2013 | |||||
|
3 | 0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv | 0.730 | 1.000 | 9 | 1999 | 2018 | |||||
|
9 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 0.760 | 1.000 | 8 | 2001 | 2014 | |||||
|
12 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 0.740 | 0.875 | 8 | 1999 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 2006 | 2012 | |||||
|
5 | 1.000 | 0.080 | 4 | 54274869 | missense variant | T/A;C | snv | 0.720 | 1.000 | 7 | 2003 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 6 | 2007 | 2016 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 0.700 | 1.000 | 6 | 2004 | 2014 | |||||
|
1 | 4 | 54727501 | inframe deletion | GAT/- | delins | 0.700 | 1.000 | 5 | 1998 | 2015 | |||||||
|
5 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 5 | 2005 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2006 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 5 | 2007 | 2014 | |||||
|
10 | 0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv | 0.730 | 1.000 | 4 | 2006 | 2017 | |||||
|
4 | 0.925 | 0.080 | 1 | 161328466 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||
|
5 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 0.700 | 1.000 | 4 | 2006 | 2012 | |||||
|
1 | 4 | 54277981 | missense variant | C/A;G | snv | 0.710 | 1.000 | 3 | 2003 | 2006 | |||||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2004 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 54736498 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 4 | 54733175 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 2007 | 2013 |