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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 10 | 71807558 | frameshift variant | -/CGAT | ins | 0.700 | 0 | ||||||||||
|
1 | 10 | 71791284 | missense variant | A/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1 | 16033225 | missense variant | G/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 21 | 36461442 | missense variant | A/G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | ||||||||
|
1 | 12 | 15669833 | splice region variant | T/C;G | snv | 2.7E-05; 9.1E-06 | 0.700 | 0 | |||||||||
|
1 | 13 | 20189227 | stop gained | C/A;T | snv | 4.0E-06; 1.0E-04 | 0.700 | 0 | |||||||||
|
1 | 1 | 108896945 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 4 | 43020381 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 3 | 121993587 | frameshift variant | AA/- | del | 0.700 | 0 | ||||||||||
|
1 | 18 | 46610789 | stop gained | C/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 69432566 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 77189430 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 77203220 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 77183146 | missense variant | C/A;T | snv | 3.9E-05 | 1.5E-04 | 0.700 | 0 | ||||||||
|
1 | 11 | 77205503 | missense variant | C/G;T | snv | 6.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||||
|
1 | 11 | 77204094 | missense variant | G/A;C | snv | 8.8E-06; 4.4E-05 | 0.700 | 0 | |||||||||
|
1 | 2 | 26474022 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 26482435 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 17633806 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 178453569 | frameshift variant | ACCTTTTACAC/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178454526 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 2 | 178453567 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 12 | 80613829 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 12 | 80678601 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 7 | 107672150 | missense variant | C/T | snv | 0.700 | 0 |