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 | 0.120 | 4 | 122743394 | missense variant | C/T | snv | 3.6E-05 | 2.0E-04 | 0.700 | 1.000 | 3 | 2010 | 2019 | |||
|
2 | 0.925 | 0.120 | 4 | 122742155 | frameshift variant | TT/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 122743267 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.120 | 4 | 122741957 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 4 | 122742574 | frameshift variant | -/T | ins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 122743915 | stop gained | C/T | snv | 8.1E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2019 | |||
|
2 | 0.925 | 0.120 | 4 | 122743006 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 4 | 2007 | 2019 | |||||
|
2 | 0.925 | 0.120 | 4 | 122742900 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 2 | 2007 | 2014 | |||||
|
1 | 1.000 | 0.120 | 4 | 122742561 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 4 | 122742947 | missense variant | A/C;G | snv | 4.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 4 | 122741996 | stop gained | C/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 122743945 | frameshift variant | ACAG/- | delins | 0.700 | 0 |