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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 3 | 87259959 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.120 | 3 | 87262203 | missense variant | C/G;T | snv | 2.4E-05; 8.0E-06 | 0.800 | 1.000 | 12 | 1992 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 87276392 | missense variant | G/A | snv | 0.800 | 1.000 | 12 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.120 | 3 | 87262098 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 12 | 1992 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 87264299 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 12 | 1992 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 87264323 | missense variant | A/C | snv | 0.800 | 1.000 | 12 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.120 | 3 | 87260055 | missense variant | G/A | snv | 0.800 | 1.000 | 12 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.120 | 3 | 87260082 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 12 | 1992 | 2016 | |||
|
1 | 1.000 | 0.120 | 3 | 87262160 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 12 | 1992 | 2016 | ||||
|
2 | 0.925 | 0.160 | 3 | 87262138 | missense variant | G/C | snv | 0.800 | 1.000 | 12 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.120 | 3 | 87262154 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 1992 | 2016 | |||||
|
1 | 1.000 | 0.120 | 3 | 87262161 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 87260022 | stop gained | C/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 87264294 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 87261272 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 87260023 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 87259994 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 87310484 | intergenic variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 57198797 | missense variant | A/C | snv | 1.9E-04 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 87264515 | splice region variant | G/A;C;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 3 | 87261296 | frameshift variant | CTTTC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 57198802 | stop gained | A/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 3 | 57198870 | frameshift variant | T/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 3 | 87259977 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 |