| 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 | 4 | 158706317 | missense variant | G/A | snv | 3.6E-05 | 0.700 | 1.000 | 2 | 2003 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 158703592 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2013 | |||
|
2 | 0.925 | 0.080 | 4 | 158706351 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.800 | 1.000 | 4 | 2007 | 2014 | |||
|
1 | 1.000 | 0.080 | 4 | 158706691 | missense variant | G/A | snv | 2.0E-05 | 1.5E-04 | 0.700 | 1.000 | 3 | 2012 | 2014 | |||
|
1 | 1.000 | 0.080 | 4 | 158680553 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2014 | |||
|
1 | 1.000 | 0.080 | 4 | 158706270 | missense variant | C/T | snv | 4.4E-05 | 5.6E-05 | 0.800 | 1.000 | 7 | 2003 | 2016 | |||
|
2 | 0.925 | 0.080 | 15 | 76274431 | missense variant | G/A | snv | 4.4E-05 | 7.7E-05 | 0.800 | 1.000 | 4 | 1992 | 2016 | |||
|
2 | 0.925 | 0.080 | 1 | 154992746 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 1 | 154990456 | inframe deletion | CCT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 1 | 154988299 | frameshift variant | -/GC | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 154988567 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 1 | 154988258 | frameshift variant | GCAGGGGGCATC/CA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 1 | 154988129 | frameshift variant | TTCT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 154984015 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 154988230 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.160 | 4 | 158682269 | missense variant | G/A | snv | 1.4E-04 | 3.5E-05 | 0.830 | 1.000 | 12 | 2003 | 2019 | |||
|
2 | 0.925 | 0.160 | 4 | 158684619 | missense variant | G/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 158680524 | missense variant | C/T | snv | 0.82 | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 12 | 104315822 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 158684649 | missense variant | A/G | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2019 | 2019 |