| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 20 | 63695619 | missense variant | G/A | snv | 1.6E-04 | 7.7E-05 | 0.700 | 1.000 | 6 | 2013 | 2015 | |||
|
1 | 1.000 | 20 | 63693183 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2013 | 2013 | |||||
|
1 | 1.000 | 20 | 63690161 | missense variant | G/T | snv | 0.700 | 1.000 | 5 | 2013 | 2013 | ||||||
|
4 | 0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 | 0.700 | 1.000 | 5 | 2013 | 2017 | ||||
|
1 | 1.000 | 20 | 63672607 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2013 | 2013 | ||||||
|
4 | 0.851 | 0.120 | 20 | 63693247 | stop gained | C/A;T | snv | 8.0E-06; 7.2E-05 | 0.700 | 1.000 | 4 | 2013 | 2017 | ||||
|
1 | 1.000 | 20 | 63662876 | stop gained | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63689639 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63694761 | stop gained | C/G;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63693004 | splice donor variant | G/T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 20 | 63692960 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 20 | 63688138 | splice acceptor variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63689581 | frameshift variant | -/C | delins | 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 | 63691819 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63692803 | splice acceptor variant | A/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63693149 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63693172 | stop gained | A/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63694478 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63694961 | frameshift variant | C/- | delins | 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 | 63674071 | frameshift variant | C/- | del | 0.700 | 0 |