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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
45 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.708 | 0.400 | 12 | 47983721 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.716 | 0.400 | 12 | 47978329 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.716 | 0.400 | 12 | 47999953 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 12 | 47979534 | missense variant | G/A | snv | 0.710 | 1.000 | 4 | 1994 | 2018 | |||||
|
3 | 0.882 | 0.280 | 6 | 70281033 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.280 | 2 | 74536348 | missense variant | G/A | snv | 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.280 | 2 | 74535400 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.280 | 6 | 70274076 | missense variant | G/A;T | snv | 4.1E-06; 2.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.280 | 12 | 47994041 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47985575 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.240 | 12 | 47987655 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47978698 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47995904 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47977627 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 48000055 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47975472 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47977428 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47981804 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47982105 | splice donor variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47982940 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47983384 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47992930 | splice acceptor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47996544 | splice region variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 12 | 47978015 | stop gained | G/A;C | snv | 4.0E-06; 3.6E-05 | 0.700 | 0 |