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 | 0.851 | 0.160 | 2 | 19941796 | stop gained | A/C | snv | 1.6E-04 | 1.9E-04 | 0.700 | 1.000 | 3 | 2013 | 2017 | |||
|
2 | 0.925 | 0.240 | 16 | 1562007 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 19945787 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 19933469 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 3 | 129481546 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 3 | 129476463 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 3 | 129440351 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 129461309 | splice region variant | G/A;C;T | snv | 2.4E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.807 | 0.200 | 4 | 39231943 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 4 | 39268040 | stop gained | C/A;T | snv | 4.3E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 75985787 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 19931375 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 19946536 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 19989284 | splice acceptor variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 19931354 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 19975596 | missense variant | A/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 129476450 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.200 | 4 | 39225027 | stop gained | C/G | snv | 1.7E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.120 | 3 | 129500070 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
13 | 0.807 | 0.200 | 4 | 39218060 | missense variant | C/G | snv | 0.700 | 0 |