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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2005 | 2009 | |||||
|
4 | 0.925 | 0.080 | 1 | 17033135 | frameshift variant | -/G | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1 | 17053977 | stop gained | -/GCAACCGGCGCCTCAAGGAGAGGGCG | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 17024005 | frameshift variant | -/GTTCC | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17024009 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17053948 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17022660 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2015 | ||||||
|
7 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 1.000 | 7 | 2005 | 2017 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1995 | 2018 | |||||
|
2 | 1.000 | 0.080 | 1 | 17033069 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2007 | 2012 | |||||
|
2 | 1.000 | 0.040 | 1 | 17044767 | missense variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2003 | 2015 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 0.700 | 1.000 | 3 | 2006 | 2012 | |||||
|
2 | 1.000 | 0.080 | 1 | 17053994 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 0.700 | 0 | ||||||||
|
1 | 1 | 17023976 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 1 | 17027808 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 17027847 | frameshift variant | C/- | del | 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 | 12 | 2008 | 2018 | |||
|
2 | 1.000 | 0.080 | 1 | 17024049 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 17033068 | missense variant | C/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 1 | 17027763 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 17023973 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2006 | 2015 | |||||||
|
9 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 2002 | 2018 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 13 | 2006 | 2018 | |||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 2005 | 2017 |