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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.080 | 5 | 162093965 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
4 | 0.882 | 0.080 | 15 | 26773694 | missense variant | G/A | snv | 2.9E-03 | 3.5E-03 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
14 | 0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 | 0.020 | < 0.001 | 2 | 2007 | 2012 | ||||
|
3 | 0.925 | 0.040 | 15 | 26772759 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2008 | 2012 | |||||
|
2 | 0.925 | 0.040 | 5 | 45295178 | intron variant | T/C | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 160039331 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 1 | 160042616 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 6 | 52454252 | missense variant | G/A | snv | 1.0E-02 | 9.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 16 | 1204325 | missense variant | G/A | snv | 2.4E-04 | 4.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 15 | 22866495 | missense variant | A/G | snv | 7.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 5 | 161686327 | missense variant | C/A;T | snv | 4.0E-06; 3.3E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 16 | 1200559 | synonymous variant | T/A;C | snv | 0.37 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 16 | 1202259 | synonymous variant | A/G | snv | 0.42 | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 |