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 | 0.240 | 15 | 51211017 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 | 0.800 | 1.000 | 4 | 1993 | 2014 | |||
|
1 | 1.000 | 0.240 | 15 | 51212460 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.800 | 1.000 | 4 | 1993 | 2014 | |||
|
1 | 1.000 | 0.240 | 15 | 51211010 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 4 | 1993 | 2014 | ||||
|
1 | 1.000 | 0.240 | 15 | 51212489 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 0 | |||||||
|
4 | 0.851 | 0.240 | 15 | 51222402 | missense variant | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.240 | 15 | 51222349 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 15 | 51218539 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 15 | 51212359 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 15 | 51236858 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 15 | 51218658 | splice region variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 15 | 51236913 | missense variant | T/C | snv | 9.9E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.240 | 15 | 51210968 | missense variant | A/G | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.240 | 15 | 51212459 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |