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 | 11 | 112226489 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 12 | 1994 | 2001 | |||
|
2 | 0.925 | 0.120 | 11 | 112226516 | stop gained | C/G;T | snv | 0.800 | 1.000 | 2 | 1998 | 2013 | |||||
|
1 | 1.000 | 0.120 | 11 | 112226517 | missense variant | G/A | snv | 0.800 | 1.000 | 12 | 1994 | 2001 | |||||
|
1 | 1.000 | 0.120 | 11 | 112226521 | missense variant | G/T | snv | 1.0E-05 | 0.700 | 1.000 | 12 | 1994 | 2001 | ||||
|
1 | 1.000 | 0.120 | 11 | 112226527 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 112228271 | intron variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 112228591 | splice region variant | C/G;T | snv | 2.4E-04 | 0.700 | 1.000 | 4 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 112228614 | missense variant | A/G | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 112228618 | missense variant | C/G | snv | 4.1E-06 | 0.700 | 1.000 | 12 | 1994 | 2001 | ||||
|
1 | 1.000 | 0.120 | 11 | 112228626 | frameshift variant | TTTG/- | delins | 4.0E-06 | 7.2E-06 | 0.700 | 1.000 | 4 | 2001 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 112228649 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1994 | 2001 | ||||
|
3 | 0.882 | 0.120 | 11 | 112228665 | missense variant | A/G | snv | 1.2E-04 | 7.0E-06 | 0.800 | 1.000 | 18 | 1994 | 2017 | |||
|
1 | 1.000 | 0.120 | 11 | 112229367 | non coding transcript exon variant | AAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGAGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 112230206 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 112230210 | missense variant | G/A;C | snv | 1.6E-05; 8.0E-06 | 0.800 | 1.000 | 15 | 1994 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 112230210 | inframe deletion | GTG/- | delins | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 5 | 1995 | 2016 | |||
|
1 | 1.000 | 0.120 | 11 | 112230231 | splice donor variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 112230639 | missense variant | C/T | snv | 6.8E-05 | 1.4E-05 | 0.800 | 1.000 | 18 | 1994 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 112230664 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 112230681 | splice donor variant | -/GG | delins | 0.700 | 1.000 | 2 | 1987 | 2006 | |||||
|
1 | 1.000 | 0.120 | 11 | 112233162 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 11 | 112233178 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-05 | 0.800 | 1.000 | 18 | 1994 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 112233179 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 15 | 1994 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 112233205 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 21 | 1994 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 112233208 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 12 | 1994 | 2001 |