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 | 0.080 | 9 | 132331293 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.810 | 1.000 | 10 | 2004 | 2014 | |||
|
1 | 1.000 | 0.080 | 9 | 132296909 | missense variant | A/C | snv | 1.6E-05 | 2.8E-05 | 0.800 | 1.000 | 9 | 2004 | 2013 | |||
|
1 | 1.000 | 0.080 | 9 | 132281483 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 9 | 2004 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 132334624 | missense variant | C/D;T | snv | 0.700 | 1.000 | 9 | 2004 | 2013 | |||||
|
1 | 1.000 | 0.080 | 9 | 132271806 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 2004 | 2013 | |||
|
3 | 1.000 | 0.080 | 9 | 132327718 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 8 | 2004 | 2013 | |||
|
1 | 1.000 | 0.080 | 9 | 132326331 | missense variant | A/G | snv | 8.1E-06 | 0.700 | 1.000 | 8 | 2004 | 2013 | ||||
|
2 | 0.925 | 0.120 | 9 | 132330432 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 2004 | 2013 | |||||
|
2 | 0.925 | 0.120 | 9 | 132326334 | frameshift variant | G/- | del | 0.700 | 1.000 | 3 | 2004 | 2009 | |||||
|
2 | 0.925 | 0.120 | 9 | 132277144 | splice acceptor variant | CTGT/-;CTGTCTGT | delins | 3.5E-05 | 0.700 | 1.000 | 2 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 132329791 | missense variant | T/C | snv | 1.0E-03 | 4.8E-03 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 9 | 132329641 | missense variant | G/T | snv | 1.5E-03 | 6.4E-03 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 9 | 132297006 | frameshift variant | ATTGCTTTCT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 132295940 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 132288238 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 9 | 132327511 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 132328996 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 132296907 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 132331123 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 132278226 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 132288344 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 132328627 | frameshift variant | CCTTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 9 | 132346304 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 9 | 132311820 | frameshift variant | CTCT/-;CT | delins | 4.0E-06; 2.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 132334626 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.700 | 0 |