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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.851 | 0.200 | 11 | 22221100 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | MT | 4365 | non coding transcript exon variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 17 | 39665391 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 22270443 | splice donor variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178671132 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | X | 154379790 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 19 | 38467665 | inframe insertion | -/TCCTAT | delins | 0.700 | 0 | ||||||||||
|
21 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | X | 32343174 | stop gained | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 18 | 72302261 | intergenic variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 30446936 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 150167075 | downstream gene variant | A/G | snv | 2.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
21 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 21 | 45990771 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 23416071 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
3 | 1 | 155140104 | missense variant | A/T | snv | 0.700 | 0 | ||||||||||
|
9 | X | 32849737 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
4 | 0.882 | 0.120 | 17 | 42691905 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 1 | 154170441 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 9 | 36249352 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 9 | 36217448 | missense variant | C/A;T | snv | 8.9E-04; 1.7E-03 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 7 | 143351678 | stop gained | C/A;T | snv | 4.0E-06; 2.9E-03 | 0.700 | 0 | |||||||
|
1 | 19 | 38506860 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.120 | 14 | 101979951 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2008 |