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 | 2 | 232535130 | frameshift variant | GA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 232535148 | stop gained | C/T | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 232544541 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 232540681 | missense variant | T/G | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 232540387 | stop gained | C/A;T | snv | 8.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 232543030 | frameshift variant | CT/- | del | 2.6E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 174754242 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 1982 | 1997 | |||||
|
2 | 0.925 | 0.120 | 2 | 232542992 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.800 | 1.000 | 2 | 2006 | 2006 | |||
|
3 | 0.925 | 0.160 | 2 | 174748177 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2013 | 2017 | |||
|
1 | 1.000 | 0.120 | 2 | 232527436 | stop gained | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 2 | 232528301 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 2 | 174753595 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 3 | 81642817 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |