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 | 0.080 | 12 | 109786716 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 12 | 109784362 | frameshift variant | TCATTCTTGCCCGGGTC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109803106 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 12 | 109800754 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109798883 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109798774 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
31 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.040 | 8 | 28717012 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 21563170 | frameshift variant | GG/- | delins | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.080 | 11 | 103253342 | missense variant | G/A;T | snv | 6.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 12 | 109792695 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 15 | 23644535 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.280 | 9 | 137815998 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 4 | 1801519 | missense variant | C/T | snv | 0.700 | 0 |