| 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 | 0.080 | 20 | 18515695 | missense variant | G/A | snv | 2.3E-04 | 2.3E-04 | 0.810 | 1.000 | 7 | 2009 | 2014 | |||
|
1 | 1.000 | 0.080 | 20 | 18542380 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.800 | 1.000 | 5 | 2009 | 2013 | |||
|
3 | 0.882 | 0.080 | 20 | 18510875 | missense variant | C/T | snv | 2.3E-04 | 1.7E-04 | 0.800 | 1.000 | 4 | 2009 | 2011 | |||
|
1 | 1.000 | 0.080 | 20 | 18543095 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 2 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 20 | 18525021 | splice donor variant | G/A;C | snv | 2.4E-05; 8.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 18554343 | missense variant | C/T | snv | 4.8E-05 | 4.9E-05 | 0.700 | 1.000 | 2 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 20 | 18535747 | splice region variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 20 | 18525888 | stop gained | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 20 | 18526508 | stop gained | C/T | snv | 3.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 20 | 18524980 | stop gained | C/T | snv | 5.2E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 20 | 18524642 | frameshift variant | CAAGGATT/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 20 | 18525913 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 20 | 18542398 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 238164165 | missense variant | G/T | snv | 4.7E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |