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 | 0.950 | 20 | 1997 | 2007 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.100 | 0.950 | 20 | 1997 | 2007 | |||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.080 | 0.875 | 8 | 2000 | 2016 | |||
|
14 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 0.040 | 1.000 | 4 | 2004 | 2019 | ||||
|
21 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2017 | |||
|
4 | 0.851 | 0.200 | 5 | 112767356 | missense variant | A/G | snv | 3.5E-04 | 2.7E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 5 | 112843098 | missense variant | G/A | snv | 2.0E-02 | 1.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
10 | 0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 5 | 112801313 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
6 | 0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.080 | 5 | 112707585 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |