| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 4 | 186287800 | missense variant | G/A | snv | 1.4E-05 | 0.800 | 1.000 | 7 | 1989 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 186285811 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 1989 | 2015 | |||||
|
1 | 1.000 | 0.080 | 4 | 186287720 | missense variant | C/A;T | snv | 4.0E-06; 8.7E-05 | 0.800 | 1.000 | 4 | 1989 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 186288518 | missense variant | C/A;T | snv | 0.800 | 1.000 | 1 | 1989 | 2019 | |||||
|
1 | 1.000 | 0.080 | 4 | 186285711 | missense variant | T/G | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 0 | 1989 | 2015 | |||
|
1 | 1.000 | 0.080 | 4 | 186288496 | missense variant | G/C | snv | 0.800 | 1.000 | 0 | 1989 | 2015 | |||||
|
1 | 1.000 | 0.080 | 4 | 186288460 | stop gained | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 0 | 1989 | 2015 | ||||
|
1 | 1.000 | 0.080 | 4 | 186288525 | stop gained | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 0 | 1989 | 2015 | ||||
|
1 | 0.925 | 0.080 | 4 | 186288514 | missense variant | C/G;T | snv | 4.0E-05 | 0.710 | 1.000 | 5 | 2004 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 186285765 | missense variant | G/A | snv | 1.0E-04 | 2.1E-05 | 0.700 | 1.000 | 6 | 2003 | 2019 | |||
|
2 | 1.000 | 0.080 | 4 | 186286490 | stop gained | G/A;C | snv | 3.2E-05 | 0.700 | 1.000 | 4 | 2000 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 186287824 | splice donor variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 3 | 1989 | 2013 | |||
|
1 | 1.000 | 0.080 | 4 | 186286489 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2003 | 2008 | |||||
|
1 | 1.000 | 0.080 | 4 | 186285803 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 4 | 186286423 | stop gained | C/T | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 4 | 186285655 | frameshift variant | T/- | delins | 5.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 4 | 186285646 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 4 | 186286414 | splice acceptor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 186285723 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 186287783 | frameshift variant | TCTGTGC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 186285637 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 186285662 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 186285693 | frameshift variant | AAAAGAGGACACAT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 186285708 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 186285815 | splice donor variant | T/C | snv | 0.700 | 0 |