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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 10 | 84200685 | frameshift variant | -/A | delins | 8.4E-06; 4.2E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 14 | 88429394 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 9982521 | frameshift variant | -/A | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 17 | 8016448 | frameshift variant | -/ACCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 197427543 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 8015981 | frameshift variant | -/CGTGCTCT | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 6 | 35506146 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 6 | 79487621 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 14 | 88438016 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 14 | 21312458 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 21312468 | frameshift variant | A/- | delins | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 68444665 | frameshift variant | A/-;AA | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 19 | 47836381 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.040 | 3 | 121828473 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 88114573 | intron variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 46837205 | splice region variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 1 | 197442236 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 8 | 86644689 | splice region variant | A/C;G | snv | 1.3E-05; 8.9E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 14 | 21302561 | synonymous variant | A/G | snv | 4.8E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 17 | 6426684 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 14 | 56802068 | stop gained | A/G;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 17 | 6426906 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 3 | 121808978 | frameshift variant | AA/- | delins | 1.0E-04 | 1.4E-04 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.080 | 1 | 68444818 | frameshift variant | AAATTCTGTTATGACGATCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 46853857 | frameshift variant | AGGGC/- | delins | 0.700 | 0 |