| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 20 | 63662608 | frameshift variant | AA/- | del | 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63662876 | stop gained | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 20 | 63662886 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63667484 | stop gained | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63667503 | stop gained | C/G;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63672607 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2013 | 2013 | ||||||
|
1 | 1.000 | 20 | 63674071 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63678347 | splice donor variant | G/T | snv | 8.3E-06 | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 20 | 63687765 | missense variant | G/T | snv | 4.9E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 2009 | 2016 | |||
|
1 | 1.000 | 20 | 63688138 | splice acceptor variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63688578 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 20 | 63689115 | missense variant | G/A;T | snv | 8.1E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63689581 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63689639 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63689821 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63690161 | missense variant | G/T | snv | 0.700 | 1.000 | 5 | 2013 | 2013 | ||||||
|
1 | 1.000 | 20 | 63690178 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63690205 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63690212 | splice donor variant | T/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63690803 | splice acceptor variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63690922 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63691769 | frameshift variant | TCTG/- | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 20 | 63691799 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 20 | 63691819 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63692803 | splice acceptor variant | A/C | snv | 0.700 | 0 |