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 | 0.925 | 0.080 | 11 | 5226780 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 11 | 5226763 | frameshift variant | AGAA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 11 | 5227004 | frameshift variant | AG/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 5226975 | stop gained | C/T | snv | 8.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.080 | 11 | 5225710 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 11 | 5227002 | frameshift variant | T/- | del | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.080 | 11 | 5225832 | intron variant | G/C | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 11 | 5225923 | intron variant | G/A | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 5226994 | frameshift variant | -/C | delins | 2.5E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
11 | 0.752 | 0.080 | 11 | 5226820 | non coding transcript exon variant | C/T | snv | 1.6E-04 | 9.1E-05 | 0.700 | 0 | ||||||
|
11 | 0.724 | 0.280 | 11 | 5227100 | 5 prime UTR variant | T/C | snv | 8.9E-04 | 0.700 | 0 |