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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 9 | 136499229 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.240 | 9 | 136517908 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 9 | 136505409 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 9 | 136517800 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 136510689 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 9 | 136505347 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 136508276 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 136513108 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 136515368 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 136519511 | frameshift variant | CAGT/GG | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 136523177 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 136519566 | splice acceptor variant | C/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1.000 | 9 | 136505674 | stop gained | C/A;T | snv | 2.1E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 9 | 136505028 | stop gained | C/A;T | snv | 5.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 9 | 136518172 | missense variant | G/A;C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 9 | 136515976 | splice region variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 9 | 136517850 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 9 | 136517848 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 9 | 136517826 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 9 | 136516000 | stop gained | -/T | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 9 | 136505776 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 9 | 136504951 | frameshift variant | -/A | delins | 4.9E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 9 | 136499144 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 9 | 136508291 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 136513123 | stop gained | G/A | snv | 0.700 | 0 |