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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 3 | 48575497 | missense variant | G/A;C | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 48583945 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.120 | 3 | 48590721 | stop gained | G/A | snv | 3.6E-05 | 2.1E-05 | 0.700 | 1.000 | 10 | 1994 | 2016 | |||
|
13 | 0.732 | 0.120 | 3 | 48593538 | missense variant | T/C | snv | 3.2E-05 | 9.1E-05 | 0.720 | 1.000 | 5 | 1996 | 2012 | |||
|
3 | 0.882 | 0.080 | 3 | 48575392 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 1998 | 2004 | |||||
|
1 | 1.000 | 0.080 | 3 | 48576272 | stop gained | G/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 1999 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 48579271 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2017 | |||
|
8 | 0.776 | 0.120 | 3 | 48590817 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 3 | 1999 | 2007 | |||||
|
2 | 0.925 | 0.080 | 3 | 48575673 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.080 | 3 | 48565636 | stop gained | G/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 3 | 48565160 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 3 | 48579489 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 48585068 | frameshift variant | -/C | delins | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 3 | 48586123 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 48593553 | missense variant | C/T | snv | 1.1E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 |