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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.320 | 13 | 20189407 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
11 | 0.742 | 0.240 | 13 | 20223450 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.882 | 0.160 | 13 | 20223371 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.240 | 16 | 79470 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
7 | 0.807 | 0.320 | 13 | 20189532 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.240 | 1 | 67168187 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.240 | 4 | 153702941 | missense variant | G/A | snv | 3.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.240 | 13 | 20189540 | frameshift variant | -/T | delins | 2.1E-05 | 0.030 | 1.000 | 3 | 2004 | 2009 | ||||
|
13 | 0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 | 0.050 | 1.000 | 5 | 2004 | 2018 | ||||
|
9 | 0.790 | 0.280 | 13 | 20189434 | missense variant | C/A;T | snv | 0.080 | 1.000 | 8 | 2003 | 2019 | |||||
|
8 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 0.100 | 1.000 | 11 | 2006 | 2019 | |||||
|
7 | 0.790 | 0.240 | 13 | 20189448 | missense variant | C/T | snv | 8.0E-06 | 0.100 | 1.000 | 11 | 2006 | 2019 |