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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 19 | 11113347 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113406 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113705 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11111628 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11111534 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11111567 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11111583 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11113510 | non coding transcript exon variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11113588 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 19 | 11113603 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11113632 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11113706 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11113742 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11113743 | inframe deletion | TGG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 19 | 11113307 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 19 | 11113285 | synonymous variant | C/T | snv | 1.7E-03 | 1.4E-03 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.120 | 19 | 11113313 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 19 | 11111620 | synonymous variant | G/A | snv | 1.2E-04 | 5.2E-04 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113620 | missense variant | G/A;C;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.080 | 19 | 11113608 | missense variant | G/A;T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 19 | 11113382 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 19 | 11113679 | synonymous variant | G/A | snv | 3.2E-05 | 7.7E-05 | 0.700 | 0 |