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 | 0.080 | 2 | 214986563 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 2003 | 2012 | |||||
|
2 | 0.925 | 0.080 | 2 | 214986566 | missense variant | T/C | snv | 4.8E-05 | 4.2E-05 | 0.800 | 1.000 | 5 | 2003 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 214982225 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 5 | 2003 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 214980608 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 2003 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 214978830 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.800 | 1.000 | 5 | 2003 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 215031849 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 214980547 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 214959024 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2012 | ||||
|
5 | 0.882 | 0.120 | 2 | 215045850 | stop gained | G/A;C;T | snv | 4.0E-06; 9.2E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 214982285 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 214974853 | missense variant | G/A | snv | 1.6E-04 | 7.0E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 2 | 215019335 | splice donor variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 |