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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2007 | 2014 | |||||
|
9 | 0.827 | 0.080 | 4 | 54285926 | missense variant | A/T | snv | 0.800 | 0.952 | 21 | 2003 | 2018 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 0.700 | 1.000 | 4 | 2006 | 2012 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2007 | 2014 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 4 | 54727414 | splice region variant | AAACCCATGTATGAAGTACAGTGGAAG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 4 | 54731338 | frameshift variant | AC/- | del | 0.700 | 0 | ||||||||||
|
1 | 4 | 54727433 | protein altering variant | ACAGTGGA/CC | delins | 0.700 | 0 | ||||||||||
|
4 | 0.882 | 0.080 | 1 | 17028691 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1.000 | 0.120 | 17 | 31219018 | frameshift variant | AG/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 4 | 54274883 | inframe deletion | AGCCCAGATGGACATGAA/- | del | 0.700 | 0 | ||||||||||
|
1 | 4 | 54285928 | inframe deletion | ATCATGCATGAT/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
4 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024007 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2006 | 2015 | |||
|
1 | 4 | 54277981 | missense variant | C/A;G | snv | 0.710 | 1.000 | 3 | 2003 | 2006 | |||||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 16 | 2003 | 2016 | ||||
|
9 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2003 | 2016 | ||||
|
8 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 0.700 | 1.000 | 10 | 2006 | 2013 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 2006 | 2012 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
2 | 1.000 | 0.080 | 1 | 17022723 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 |