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 | 1.000 | 0.080 | 11 | 5225653 | missense variant | G/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 0.882 | 0.120 | 11 | 5226684 | missense variant | C/G;T | snv | 9.4E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 5225728 | splice acceptor variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 5225733 | splice region variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.807 | 0.280 | 11 | 5227099 | 5 prime UTR variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 11 | 5226947 | splice region variant | A/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 5226930 | missense variant | C/G;T | snv | 1.0E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 5227004 | frameshift variant | AG/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 5226996 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 11 | 5226994 | frameshift variant | -/C | delins | 2.5E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 11 | 5227002 | frameshift variant | T/- | del | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 11 | 5226780 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 11 | 5226975 | stop gained | C/T | snv | 8.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 11 | 5226763 | frameshift variant | AGAA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 11 | 5226762 | stop gained | C/A;G;T | snv | 2.8E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 11 | 5227003 | missense variant | C/G;T | snv | 9.2E-04; 4.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 11 | 5227020 | start lost | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 11 | 5225678 | stop gained | C/A;G;T | snv | 7.0E-04; 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 11 | 5225488 | 3 prime UTR variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 11 | 5225923 | intron variant | G/A | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.080 | 11 | 5226937 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.080 | 11 | 5225710 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.080 | 11 | 5226940 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.080 | 11 | 5226943 | stop gained | C/A;G;T | snv | 2.5E-04 | 0.700 | 0 | |||||||
|
10 | 0.752 | 0.080 | 11 | 5226774 | stop gained | G/A;C;T | snv | 3.3E-04 | 0.700 | 0 |