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 | 1.000 | 11 | 20628056 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 0.800 | 1.000 | 2 | 2006 | 2019 | ||||
|
2 | 1.000 | 11 | 20607583 | missense variant | C/G | snv | 0.800 | 1.000 | 2 | 2006 | 2019 | ||||||
|
2 | 1.000 | 11 | 20630717 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2006 | 2019 | |||||
|
2 | 1.000 | 11 | 20626721 | missense variant | C/A;T | snv | 8.0E-06; 3.6E-05 | 0.800 | 1.000 | 2 | 2006 | 2019 | |||||
|
2 | 1.000 | 11 | 20630721 | missense variant | T/G | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2006 | 2019 | |||||
|
1 | 1.000 | 11 | 20604316 | stop gained | C/G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 11 | 20617755 | stop gained | C/A | snv | 8.0E-06 | 3.5E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 11 | 20638477 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 11 | 20626741 | frameshift variant | G/TT | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 11 | 20626733 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 11 | 20636322 | missense variant | T/C | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 |