| 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 | 1 | 154588125 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2005 | 2014 | |||||
|
4 | 0.882 | 0.200 | 1 | 154602065 | missense variant | G/C;T | snv | 2.2E-03; 4.0E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 1 | 154589456 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1.000 | 1 | 154589817 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1.000 | 1 | 154585323 | missense variant | C/G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1.000 | 1 | 154585325 | missense variant | T/A | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1.000 | 1 | 154588147 | missense variant | C/A | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1.000 | 1 | 154589810 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 1 | 154585314 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.080 | 1 | 154590246 | frameshift variant | CT/- | del | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 1 | 154585853 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 154601562 | frameshift variant | GCTTC/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 154598557 | stop gained | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 |