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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.813 | 16 | 1998 | 2016 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.100 | 0.813 | 16 | 1998 | 2016 | |||
|
11 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
|
2 | 5 | 112838427 | missense variant | A/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
2 | 5 | 112837677 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
4 | 5 | 112839334 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
14 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.040 | 5 | 112837797 | missense variant | G/C | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 5 | 112842342 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 5 | 112837554 | missense variant | C/A;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
3 | 1.000 | 0.080 | 5 | 112801324 | missense variant | C/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
21 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 5 | 112792452 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 5 | 112838608 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |