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 | 0.160 | 20 | 6089031 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2003 | 2011 | |||||
|
1 | 1.000 | 0.160 | 20 | 6084083 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2003 | 2011 | |||||
|
1 | 1.000 | 0.160 | 20 | 6107570 | stop gained | G/A | snv | 3.2E-05 | 5.6E-05 | 0.710 | 1.000 | 4 | 2003 | 2006 | |||
|
1 | 1.000 | 0.160 | 20 | 6097571 | stop gained | C/A | snv | 6.4E-05 | 4.9E-05 | 0.700 | 1.000 | 5 | 2003 | 2015 | |||
|
1 | 1.000 | 0.160 | 20 | 6085276 | stop gained | G/A;T | snv | 4.1E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 20 | 6097592 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 20 | 6096996 | frameshift variant | GT/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 20 | 6122775 | splice region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 20 | 6110493 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 20 | 6097523 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 20 | 6094937 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 20 | 6089053 | stop gained | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 20 | 6079448 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.160 | 20 | 6107594 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6097619 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 20 | 6084043 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6112545 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6110368 | frameshift variant | G/-;GG | delins | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 20 | 6115895 | inframe deletion | CGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6077338 | inframe deletion | TGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6115823 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6097034 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6094199 | intron variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6089068 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 6115868 | stop gained | G/A | snv | 3.2E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |