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 | 9 | 34514527 | missense variant | G/C | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2001 | 2008 | |||||
|
1 | 9 | 34489394 | frameshift variant | C/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 34485216 | frameshift variant | T/- | del | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 9 | 34506748 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 9 | 34489431 | missense variant | C/G;T | snv | 4.1E-04 | 0.700 | 0 | |||||||||
|
1 | 9 | 34513192 | splice donor variant | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 1.000 | 0.120 | 9 | 34514436 | missense variant | G/A;T | snv | 7.6E-05; 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 9 | 34513152 | frameshift variant | C/- | del | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 9 | 34491498 | stop gained | C/A;G;T | snv | 4.0E-06; 1.6E-05; 2.0E-05 | 0.700 | 0 | |||||||||
|
1 | 9 | 34506870 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 9 | 34500732 | stop gained | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.160 | 9 | 34459054 | splice donor variant | -/T | delins | 0.700 | 1.000 | 6 | 1999 | 2018 | |||||
|
2 | 1.000 | 0.160 | 9 | 34514468 | stop gained | G/A | snv | 3.6E-05 | 5.6E-05 | 0.700 | 1.000 | 2 | 2006 | 2011 | |||
|
2 | 1.000 | 0.160 | 9 | 34513165 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2001 | 2010 | |||
|
2 | 1.000 | 0.160 | 9 | 34490011 | splice acceptor variant | G/C | snv | 4.1E-04 | 4.5E-04 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.160 | 9 | 34513112 | missense variant | G/A;C;T | snv | 7.6E-05; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.160 | 9 | 34517468 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 |