| 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 | 0.160 | 18 | 57550734 | missense variant | A/G | snv | 0.800 | 1.000 | 13 | 1991 | 2007 | |||||
|
1 | 1.000 | 18 | 57551367 | missense variant | A/C | snv | 0.800 | 1.000 | 13 | 1991 | 2007 | ||||||
|
2 | 0.925 | 0.160 | 18 | 57554336 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 0.800 | 1.000 | 13 | 1991 | 2007 | |||
|
1 | 1.000 | 18 | 57559148 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 1.000 | 13 | 1991 | 2007 | |||||
|
1 | 1.000 | 18 | 57571439 | missense variant | T/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 13 | 1991 | 2007 | ||||
|
2 | 0.925 | 0.160 | 18 | 57580082 | missense variant | G/A;C | snv | 2.8E-05; 9.3E-04 | 0.700 | 1.000 | 13 | 1991 | 2007 | ||||
|
1 | 1.000 | 18 | 57559242 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 13 | 1991 | 2007 | ||||
|
1 | 1.000 | 18 | 57554937 | missense variant | C/T | snv | 8.4E-05 | 7.0E-05 | 0.700 | 1.000 | 3 | 2006 | 2013 | ||||
|
5 | 1.000 | 18 | 57571588 | synonymous variant | A/G | snv | 0.12 | 6.3E-02 | 0.700 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 18 | 57554903 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2009 | |||||
|
1 | 1.000 | 18 | 57554424 | missense variant | C/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 18 | 57566474 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 57566513 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 57550767 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 57573244 | splice donor variant | A/C | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 18 | 57551312 | splice region variant | T/C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 57580222 | intron variant | G/A;C;T | snv | 0.25; 4.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 57580104 | missense variant | C/A;T | snv | 2.2E-02; 7.0E-04 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 57566492 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 57551316 | frameshift variant | T/- | delins | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 57554259 | splice donor variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 57573240 | splice region variant | T/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 57580062 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 57566461 | frameshift variant | ACTGT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 57551317 | stop gained | T/A | snv | 7.0E-06 | 0.700 | 0 |