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 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.800 | 1.000 | 34 | 2002 | 2016 | |||
|
11 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.800 | 1.000 | 23 | 2002 | 2017 | |||
|
3 | 0.925 | 0.120 | 1 | 45331219 | inframe deletion | CCT/- | delins | 9.5E-05 | 2.8E-05 | 0.700 | 1.000 | 20 | 2003 | 2015 | |||
|
3 | 0.925 | 0.120 | 1 | 45331220 | stop gained | C/A | snv | 5.2E-05 | 7.0E-06 | 0.700 | 1.000 | 13 | 2002 | 2017 | |||
|
5 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 0.800 | 1.000 | 12 | 2002 | 2017 | |||
|
3 | 0.882 | 0.160 | 1 | 45333449 | stop gained | G/A;T | snv | 1.4E-03; 1.2E-04 | 0.700 | 1.000 | 11 | 2002 | 2015 | ||||
|
5 | 0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 11 | 1987 | 2014 | |||||
|
2 | 1.000 | 0.120 | 1 | 45332215 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 11 | 2002 | 2016 | |||
|
4 | 0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 0.800 | 1.000 | 11 | 2002 | 2017 | |||
|
4 | 0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 | 0.700 | 1.000 | 11 | 2003 | 2013 | |||
|
2 | 1.000 | 0.120 | 1 | 45331746 | frameshift variant | GG/-;G;GGG | delins | 0.700 | 1.000 | 11 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 45331474 | frameshift variant | TTC/G | delins | 0.700 | 1.000 | 10 | 1998 | 2015 | |||||
|
3 | 0.925 | 0.120 | 1 | 45331676 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 10 | 2005 | 2015 | ||||
|
2 | 0.925 | 0.160 | 1 | 45332458 | missense variant | G/A | snv | 6.8E-05 | 2.1E-05 | 0.800 | 1.000 | 9 | 2002 | 2016 | |||
|
4 | 0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 | 0.700 | 1.000 | 9 | 2004 | 2015 | |||
|
3 | 0.882 | 0.120 | 1 | 45330557 | missense variant | C/A;T | snv | 4.2E-06; 4.2E-06 | 0.800 | 1.000 | 9 | 2002 | 2017 | ||||
|
2 | 1.000 | 0.120 | 1 | 45332795 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 0.800 | 1.000 | 9 | 2004 | 2017 | |||
|
3 | 0.925 | 0.120 | 1 | 45333472 | stop gained | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 8 | 2003 | 2010 | |||
|
2 | 1.000 | 0.120 | 1 | 45332279 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 8 | 2002 | 2017 | ||||
|
2 | 1.000 | 0.120 | 1 | 45332457 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 1.000 | 7 | 2004 | 2016 | ||||
|
3 | 0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 0.800 | 1.000 | 7 | 2004 | 2017 | ||||
|
2 | 0.925 | 0.160 | 1 | 45332443 | missense variant | C/A;T | snv | 5.6E-05; 8.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2015 | ||||
|
3 | 0.925 | 0.120 | 1 | 45332163 | splice region variant | T/G | snv | 7.6E-05 | 1.3E-04 | 0.700 | 1.000 | 7 | 2003 | 2013 | |||
|
3 | 0.851 | 0.120 | 1 | 45333436 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.700 | 1.000 | 7 | 2007 | 2015 | |||
|
2 | 1.000 | 0.120 | 1 | 45332887 | non coding transcript exon variant | TATTTCCCCTACC/- | delins | 8.0E-06 | 0.700 | 1.000 | 7 | 2006 | 2017 |