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 | 6 | 51619425 | stop gained | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 6 | 51619437 | missense variant | G/A | snv | 7.2E-05 | 7.0E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 51626996 | splice donor variant | C/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 51627006 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51627035 | stop gained | G/C | snv | 2.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 51632564 | splice donor variant | C/T | snv | 3.6E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 51632618 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2002 | 2005 | |||||
|
1 | 1.000 | 0.120 | 6 | 51632706 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2010 | |||
|
1 | 1.000 | 0.120 | 6 | 51638917 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51648099 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51648115 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 6 | 51648120 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51649119 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51649182 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51658976 | frameshift variant | GAGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51659052 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 51659153 | frameshift variant | TA/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.120 | 6 | 51659171 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 51659232 | stop gained | TA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51659270 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.120 | 6 | 51659274 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51659300 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 51659361 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 51659382 | stop gained | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 51659391 | frameshift variant | C/- | del | 0.700 | 0 |