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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 | 0.700 | 1.000 | 12 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47800166 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 12 | 1997 | 2017 | ||||
|
3 | 0.925 | 0.160 | 2 | 47799679 | stop gained | G/A;T | snv | 2.4E-04 | 2.8E-05 | 0.700 | 1.000 | 12 | 1997 | 2017 | |||
|
1 | 1.000 | 0.160 | 2 | 47791049 | missense variant | G/A;T | snv | 0.700 | 1.000 | 12 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47806231 | missense variant | C/A;T | snv | 4.0E-06; 7.6E-05 | 0.700 | 1.000 | 12 | 1997 | 2017 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806651 | missense variant | G/A;C | snv | 0.700 | 1.000 | 10 | 1994 | 2016 | |||||
|
1 | 1.000 | 0.160 | 2 | 47799813 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47799169 | missense variant | C/G | snv | 5.4E-03 | 5.5E-03 | 0.700 | 1.000 | 9 | 1997 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47783306 | missense variant | G/T | snv | 1.4E-04 | 2.2E-04 | 0.700 | 1.000 | 9 | 1997 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47801059 | missense variant | G/C;T | snv | 0.700 | 1.000 | 9 | 1997 | 2012 | |||||
|
2 | 0.925 | 0.160 | 2 | 47806838 | missense variant | T/A;C | snv | 0.700 | 1.000 | 9 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47798960 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1997 | 2012 | |||||
|
6 | 0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47804959 | missense variant | A/G;T | snv | 1.0E-03 | 0.700 | 1.000 | 9 | 1997 | 2012 | ||||
|
2 | 0.925 | 0.160 | 2 | 47803531 | missense variant | G/A | snv | 4.8E-05 | 2.8E-05 | 0.700 | 1.000 | 9 | 1997 | 2012 | |||
|
2 | 0.925 | 0.160 | 2 | 47800532 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47799851 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2012 | ||||
|
3 | 0.882 | 0.200 | 2 | 47783292 | missense variant | C/A;T | snv | 4.1E-06; 9.4E-05 | 0.700 | 1.000 | 9 | 1997 | 2012 | ||||
|
4 | 0.925 | 0.160 | 2 | 47800040 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 8 | 2008 | 2017 | ||||
|
8 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 1.000 | 7 | 2004 | 2016 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806630 | frameshift variant | -/GTCA | delins | 0.700 | 1.000 | 6 | 2003 | 2015 | |||||
|
6 | 0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 | 0.700 | 1.000 | 5 | 1999 | 2012 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806254 | frameshift variant | AGAA/-;AGAAAAGAA;AGAAAGAA | delins | 0.700 | 1.000 | 3 | 2008 | 2015 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806606 | frameshift variant | CAAG/- | delins | 0.700 | 1.000 | 3 | 2003 | 2011 |