| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 20 | 25302260 | missense variant | G/C | snv | 0.800 | 1.000 | 7 | 2010 | 2018 | |||||
|
1 | 1.000 | 0.160 | 20 | 25317064 | missense variant | C/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 7 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.160 | 20 | 25308486 | stop gained | G/A;C | snv | 2.0E-05 | 0.700 | 1.000 | 7 | 2010 | 2018 | ||||
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.160 | 20 | 25339294 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 20 | 25302247 | inframe deletion | AATGTA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 25323409 | frameshift variant | TC/AAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 25302322 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 25307980 | stop gained | -/CTTAGCT | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 20 | 25320264 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 20 | 25306909 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 20 | 25303608 | missense variant | G/A | snv | 0.700 | 0 |