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 | 0.040 | 1 | 16996008 | missense variant | C/G | snv | 0.800 | 1.000 | 11 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 16988455 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 0.800 | 1.000 | 11 | 2006 | 2017 | |||
|
1 | 1.000 | 0.040 | 1 | 16989739 | missense variant | A/C | snv | 0.800 | 1.000 | 11 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 16986864 | missense variant | A/C | snv | 0.710 | 1.000 | 10 | 2006 | 2017 | |||||
|
2 | 0.925 | 0.040 | 1 | 16991749 | missense variant | C/T | snv | 1.8E-04 | 7.7E-05 | 0.710 | 1.000 | 2 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 1 | 17005754 | missense variant | G/A;C | snv | 9.4E-05; 4.1E-06 | 0.700 | 1.000 | 10 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 16987072 | frameshift variant | G/- | del | 1.4E-04 | 7.0E-05 | 0.700 | 1.000 | 4 | 2006 | 2012 | |||
|
2 | 0.925 | 0.040 | 1 | 17004690 | splice donor variant | A/C | snv | 5.6E-05 | 9.1E-05 | 0.700 | 1.000 | 2 | 2006 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 17000107 | missense variant | C/T | snv | 4.8E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 1 | 17004818 | splice acceptor variant | CTGGGGAAGCAGG/- | delins | 3.5E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 17004399 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 16989747 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 16997112 | frameshift variant | -/CT | delins | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 1 | 16992345 | stop gained | G/A | snv | 4.1E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 16996381 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 |