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 | 0.120 | 9 | 136673906 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2002 | 2005 | |||||
|
1 | 1.000 | 0.120 | 9 | 136673873 | missense variant | G/A;C | snv | 8.4E-04; 4.3E-06; 4.3E-06 | 0.700 | 1.000 | 2 | 2002 | 2005 | ||||
|
1 | 1.000 | 0.120 | 9 | 136677537 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 9 | 136677558 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136687175 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136677545 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136676635 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136674733 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136673913 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136673826 | inframe deletion | TCCTCATGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136676670 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136674809 | splice acceptor variant | T/C | snv | 1.0E-04 | 4.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 9 | 136674753 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136676603 | stop gained | G/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 136674750 | stop gained | T/A | snv | 4.0E-04 | 1.0E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 9 | 136674770 | frameshift variant | GGAGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136676660 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 136673876 | missense variant | G/A;C | snv | 7.3E-05; 2.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 136677075 | frameshift variant | -/A | delins | 8.0E-06 | 7.7E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 9 | 136677033 | inframe deletion | AGA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 9 | 136676681 | splice acceptor variant | C/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 9 | 136676659 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 9 | 136677440 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 9 | 136677047 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 136676960 | splice donor variant | C/T | snv | 1.6E-05 | 0.700 | 0 |