| 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 | 0.851 | 0.080 | 1 | 21575736 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 1993 | 2014 | |||||
|
4 | 0.851 | 0.160 | 1 | 21563212 | missense variant | AC/CA | mnv | 0.700 | 1.000 | 7 | 2002 | 2012 | |||||
|
3 | 0.882 | 0.080 | 1 | 21561126 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 1992 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 21577448 | missense variant | G/A;T | snv | 7.0E-06 | 0.710 | 1.000 | 5 | 1994 | 2002 | ||||
|
5 | 0.827 | 0.120 | 1 | 21563158 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2000 | 2011 | |||||
|
1 | 1.000 | 0.080 | 1 | 21577439 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 1994 | 2001 | |||||
|
4 | 0.925 | 0.080 | 1 | 21573673 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2002 | |||||
|
1 | 1.000 | 0.080 | 1 | 21573801 | splice donor variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2005 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 21575877 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2000 | 2018 | |||||
|
2 | 0.925 | 0.080 | 1 | 21554124 | frameshift variant | AACT/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 21560652 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 21573727 | frameshift variant | TC/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 1 | 21575813 | frameshift variant | -/GCAG | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 21575914 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 21563204 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.080 | 1 | 21573764 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.080 | 1 | 21575774 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 21576545 | frameshift variant | GACA/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 1 | 21560692 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 21568246 | missense variant | A/G | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 1 | 21560694 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 21570349 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 21575731 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 21577499 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 21561214 | splice donor variant | T/A | snv | 0.700 | 0 |