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 | 9 | 101421899 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-04 | 0.800 | 1.000 | 19 | 1988 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 101421877 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.710 | 1.000 | 11 | 1988 | 2010 | |||
|
1 | 1.000 | 0.080 | 9 | 101427574 | missense variant | C/G | snv | 3.0E-03 | 3.1E-03 | 0.700 | 1.000 | 16 | 1983 | 2017 | |||
|
1 | 1.000 | 0.080 | 9 | 101428485 | frameshift variant | TGTT/- | delins | 7.0E-05 | 0.700 | 1.000 | 12 | 1990 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 101425566 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1988 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 101425588 | missense variant | C/A | snv | 0.700 | 1.000 | 11 | 1988 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 101424932 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 11 | 1988 | 2010 | |||
|
1 | 1.000 | 0.080 | 9 | 101425482 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 1988 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 101429858 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 1988 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 101427498 | missense variant | G/T | snv | 3.6E-04 | 3.0E-04 | 0.700 | 1.000 | 10 | 1990 | 2015 | |||
|
1 | 1.000 | 0.080 | 9 | 101430878 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1994 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 101429901 | stop gained | G/A;T | snv | 8.4E-05; 1.2E-05 | 0.700 | 1.000 | 7 | 1994 | 2015 | ||||
|
4 | 0.851 | 0.240 | 11 | 22236206 | missense variant | G/T | snv | 1.0E-03 | 9.6E-04 | 0.700 | 1.000 | 7 | 2010 | 2015 | |||
|
1 | 1.000 | 0.080 | 9 | 101426567 | stop gained | A/C;T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1993 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 101421891 | missense variant | G/A;C | snv | 1.5E-04; 3.2E-05 | 0.700 | 1.000 | 7 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 101429755 | splice region variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 101424931 | missense variant | C/G;T | snv | 4.0E-06; 2.1E-04 | 0.700 | 1.000 | 3 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 101425629 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 3 | 2004 | 2012 | |||||
|
1 | 1.000 | 0.080 | 9 | 101430775 | splice donor variant | C/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 9 | 101427578 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 9 | 101424901 | splice acceptor variant | -/A | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 9 | 101427643 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 9 | 101435708 | splice donor variant | C/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 101427500 | stop gained | G/A;C | snv | 3.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 9 | 101429754 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 |