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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 0.800 | 1.000 | 30 | 2002 | 2017 | |||
|
7 | 0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 0.800 | 1.000 | 30 | 2002 | 2017 | |||
|
4 | 0.882 | 0.120 | 1 | 45330557 | missense variant | C/A;T | snv | 4.2E-06; 4.2E-06 | 0.800 | 1.000 | 29 | 2002 | 2017 | ||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.800 | 1.000 | 23 | 2002 | 2017 | |||
|
2 | 1.000 | 0.120 | 1 | 45332215 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 23 | 2002 | 2016 | |||
|
1 | 1.000 | 0.120 | 1 | 45331467 | missense variant | G/A | snv | 8.2E-04 | 8.0E-04 | 0.700 | 1.000 | 22 | 2002 | 2017 | |||
|
3 | 0.882 | 0.160 | 1 | 45331240 | missense variant | G/T | snv | 2.4E-05 | 5.6E-05 | 0.700 | 1.000 | 22 | 2002 | 2017 | |||
|
1 | 1.000 | 0.120 | 1 | 45332597 | missense variant | T/C | snv | 2.2E-04 | 8.4E-05 | 0.700 | 1.000 | 22 | 2002 | 2017 | |||
|
3 | 0.925 | 0.160 | 1 | 45332458 | missense variant | G/A | snv | 6.8E-05 | 2.1E-05 | 0.800 | 1.000 | 22 | 2002 | 2016 | |||
|
1 | 1.000 | 0.120 | 1 | 45332785 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 22 | 2002 | 2017 | |||
|
1 | 1.000 | 0.120 | 1 | 45331193 | missense variant | C/A;T | snv | 3.6E-05 | 6.3E-05 | 0.700 | 1.000 | 22 | 2002 | 2017 | |||
|
1 | 1.000 | 0.120 | 1 | 45332617 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 22 | 2002 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 45332952 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 22 | 2002 | 2017 | |||
|
2 | 1.000 | 0.120 | 1 | 45332279 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 20 | 2002 | 2017 | ||||
|
2 | 1.000 | 0.120 | 1 | 45332252 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 17 | 2002 | 2016 | |||
|
4 | 0.925 | 0.120 | 1 | 45332773 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 2002 | 2016 | ||||
|
3 | 0.882 | 0.120 | 1 | 45334495 | missense variant | G/A | snv | 1.1E-03 | 4.9E-04 | 0.700 | 1.000 | 15 | 2002 | 2016 | |||
|
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 | |||
|
4 | 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 | ||||
|
3 | 0.925 | 0.120 | 1 | 45331219 | inframe deletion | CCT/- | delins | 9.5E-05 | 2.8E-05 | 0.700 | 1.000 | 20 | 2003 | 2015 | |||
|
4 | 0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 | 0.700 | 1.000 | 11 | 2003 | 2013 | |||
|
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 | |||
|
5 | 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 | |||
|
2 | 1.000 | 0.120 | 1 | 45333100 | protein altering variant | -/ATCCAT | delins | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2016 |