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 | 0.120 | 5 | 71641018 | missense variant | G/A;C | snv | 7.8E-04; 4.0E-06 | 5.7E-04 | 0.800 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.120 | 5 | 71634977 | missense variant | G/T | snv | 5.6E-05 | 7.0E-06 | 0.800 | 1.000 | 4 | 2001 | 2016 | |||
|
1 | 1.000 | 0.120 | 5 | 71646279 | splice donor variant | T/C | snv | 0.700 | 1.000 | 3 | 2001 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 71602585 | missense variant | C/T | snv | 4.4E-05 | 2.1E-05 | 0.800 | 1.000 | 2 | 2005 | 2012 | |||
|
1 | 1.000 | 0.120 | 5 | 71650118 | missense variant | G/A | snv | 9.5E-05 | 1.5E-04 | 0.800 | 1.000 | 2 | 2001 | 2016 | |||
|
1 | 1.000 | 0.120 | 5 | 71641068 | missense variant | A/T | snv | 3.6E-04 | 1.1E-04 | 0.800 | 1.000 | 2 | 2011 | 2015 | |||
|
1 | 1.000 | 0.120 | 5 | 71604359 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 5 | 71626703 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 71604412 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.120 | 5 | 71599672 | missense variant | G/A;C | snv | 3.6E-05 | 1.4E-04 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.120 | 5 | 71635231 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 71626744 | frameshift variant | -/C | delins | 0.700 | 0 |