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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 3 | 81648854 | splice donor variant | A/G | snv | 8.9E-04 | 7.7E-04 | 0.700 | 1.000 | 10 | 1998 | 2017 | |||
|
3 | 0.882 | 0.120 | 3 | 81577973 | stop gained | G/A;C | snv | 3.7E-05 | 5.6E-05 | 0.710 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.120 | 3 | 81642787 | missense variant | T/C;G | snv | 4.5E-04; 3.2E-04 | 0.710 | 1.000 | 8 | 1996 | 2015 | ||||
|
3 | 0.925 | 0.080 | 3 | 81648876 | missense variant | A/G | snv | 4.4E-06 | 2.1E-05 | 0.800 | 1.000 | 4 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 81577939 | missense variant | T/C | snv | 4.3E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2015 | |||
|
4 | 0.851 | 0.120 | 3 | 81577999 | missense variant | C/T | snv | 3.3E-05 | 4.9E-05 | 0.700 | 1.000 | 2 | 2000 | 2014 | |||
|
2 | 0.925 | 0.080 | 3 | 81705469 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2003 | 2012 | |||||
|
2 | 0.925 | 0.080 | 3 | 81535220 | stop gained | G/A;C | snv | 2.8E-05 | 0.700 | 1.000 | 4 | 2004 | 2009 | ||||
|
2 | 0.925 | 0.080 | 3 | 81646403 | missense variant | A/T | snv | 1.4E-05 | 0.800 | 1.000 | 3 | 1996 | 2004 | ||||
|
2 | 1.000 | 0.080 | 3 | 81537080 | missense variant | T/C | snv | 0.800 | 1.000 | 3 | 1996 | 2004 | |||||
|
1 | 1.000 | 0.080 | 3 | 81535246 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 1996 | 2004 | |||
|
2 | 0.925 | 0.120 | 3 | 81536940 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 81537071 | stop gained | C/T | snv | 1.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 81670852 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 20 | 427395 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 81537034 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 3 | 81761374 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 81648851 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 81594024 | splice acceptor variant | C/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 3 | 81578000 | missense variant | G/A | snv | 3.7E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.120 | 3 | 81577972 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 |