| 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 | 5 | 37187488 | missense variant | G/A | snv | 1.6E-05; 4.0E-06 | 2.1E-05 | 0.800 | 1.000 | 4 | 2012 | 2015 | ||||
|
1 | 1.000 | 5 | 37125330 | stop gained | G/A | snv | 3.2E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 5 | 37187826 | synonymous variant | A/G | snv | 6.5E-04 | 8.5E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 5 | 37153973 | stop gained | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 5 | 37184955 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 5 | 37182833 | missense variant | G/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 5 | 37231020 | missense variant | G/A | snv | 2.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 5 | 37226811 | stop gained | A/C | snv | 8.4E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 5 | 37183538 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 5 | 37221459 | missense variant | G/A;T | snv | 3.5E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 5 | 37170233 | frameshift variant | CA/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 5 | 37125315 | frameshift variant | C/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 5 | 37180021 | stop gained | A/C | snv | 1.5E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 5 | 37206347 | missense variant | C/A | snv | 6.4E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 5 | 37224655 | stop gained | G/A | snv | 1.3E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 5 | 37244435 | frameshift variant | A/-;AA | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 5 | 37221446 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 5 | 37153784 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 5 | 37125324 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 5 | 37138742 | stop gained | C/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 5 | 37168834 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 5 | 37198737 | frameshift variant | TA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 5 | 37226320 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 5 | 37158258 | stop gained | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 5 | 37206215 | frameshift variant | -/T | ins | 0.700 | 1.000 | 1 | 2015 | 2015 |