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 | 0.040 | 5 | 180616464 | missense variant | C/G | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 180616455 | missense variant | A/G | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 180613101 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 180616482 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 180619680 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 180614142 | missense variant | A/G | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 180614083 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 180619749 | missense variant | C/T | snv | 8.2E-06 | 8.4E-05 | 0.800 | 1.000 | 10 | 1998 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 180619743 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.040 | 22 | 46386401 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 46396747 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 46408994 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 46535129 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 46536303 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 180614074 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 16 | 86567709 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.040 | 16 | 86567697 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 4 | 176711575 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |