Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 9 | 131522160 | missense variant | G/A | snv | 1.4E-05 | 0.800 | 1.000 | 5 | 2006 | 2012 | ||||
|
1 | 1.000 | 9 | 131506184 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 9 | 131520175 | missense variant | G/C | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 9 | 131521351 | missense variant | G/C | snv | 4.0E-06 | 0.800 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 9 | 131523025 | frameshift variant | -/G | delins | 2.1E-04 | 0.700 | 1.000 | 6 | 2002 | 2014 | ||||
|
3 | 0.882 | 0.120 | 9 | 131509809 | splice donor variant | G/C;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2012 | |||
|
3 | 0.882 | 0.120 | 9 | 131512039 | splice acceptor variant | A/C;T | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2006 | ||||
|
2 | 0.925 | 0.120 | 9 | 131519447 | missense variant | C/G | snv | 1.6E-03 | 1.1E-03 | 0.700 | 1.000 | 3 | 2006 | 2009 | |||
|
3 | 0.882 | 0.120 | 9 | 131515524 | splice donor variant | T/C | snv | 0.700 | 1.000 | 3 | 2002 | 2006 | |||||
|
3 | 0.882 | 0.120 | 9 | 131515445 | frameshift variant | CT/- | del | 0.700 | 1.000 | 2 | 2007 | 2008 | |||||
|
3 | 0.882 | 0.120 | 9 | 131513243 | stop gained | C/G;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 1.000 | 2 | 2002 | 2016 | ||||
|
3 | 0.882 | 0.120 | 9 | 131522113 | missense variant | C/T | snv | 6.0E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.120 | 9 | 131523038 | frameshift variant | TC/-;TCTC | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 9 | 131518945 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 9 | 131510058 | frameshift variant | A/- | del | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 9 | 131518533 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.280 | 9 | 131508926 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 9 | 131512044 | stop gained | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 9 | 131522142 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 9 | 131521445 | stop gained | C/T | snv | 4.2E-05 | 0.700 | 0 |