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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.160 | 22 | 38120867 | missense variant | T/C;G | snv | 2.4E-05 | 0.800 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.925 | 0.080 | 22 | 38115667 | missense variant | G/A | snv | 9.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.080 | 22 | 38113617 | inframe deletion | AAC/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.882 | 0.080 | 22 | 38112212 | stop gained | A/C | snv | 8.2E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 22 | 38112541 | missense variant | G/A | snv | 2.6E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 22 | 38116155 | missense variant | C/T | snv | 3.6E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 38115585 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 38123180 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 38115690 | non coding transcript exon variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 22 | 38123244 | missense variant | A/T | snv | 5.9E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 22 | 38112547 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 22 | 38112211 | stop gained | CA/- | del | 3.3E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 22 | 38126370 | splice donor variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 38126451 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 38132960 | inframe insertion | -/CGG | delins | 0.700 | 0 |