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 | 0.080 | 11 | 31793795 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2003 | 2003 | |||||
|
9 | 0.851 | 0.080 | 6 | 10404623 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 10 | 100749819 | frameshift variant | GC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 10 | 100749889 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 10 | 100749759 | frameshift variant | -/GTGAACC | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 10 | 100750703 | frameshift variant | -/AC | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 1 | 245688126 | frameshift variant | ACCTCGCCCCCCAGCTCCGGGG/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 31801716 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.320 | 16 | 8811660 | missense variant | T/C | snv | 2.9E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
14 | 0.776 | 0.360 | 16 | 8811088 | stop gained | C/A;T | snv | 4.4E-05; 5.4E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.280 | 11 | 31793787 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | 19 | 38290215 | missense variant | A/G | snv | 2.1E-04 | 1.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 |