| 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 | 0.080 | 12 | 115969097 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 12 | 115987146 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 12 | 115987289 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 116012902 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 116019846 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 12 | 115975287 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 12 | 116022480 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 115997221 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 115963419 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 115975601 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 115991433 | frameshift variant | TAG/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 116006333 | frameshift variant | CA/- | delins | 0.700 | 0 |