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 | 0.200 | 8 | 63072990 | missense variant | A/C | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 63072935 | missense variant | C/T | snv | 3.2E-05 | 7.7E-05 | 0.800 | 1.000 | 7 | 1995 | 2014 | |||
|
1 | 1.000 | 0.120 | 8 | 63066035 | stop gained | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.800 | 1.000 | 7 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 63061353 | missense variant | C/G | snv | 0.800 | 1.000 | 7 | 1995 | 2014 | |||||
|
2 | 0.925 | 0.120 | 8 | 63064294 | missense variant | C/T | snv | 5.6E-05 | 9.8E-05 | 0.800 | 1.000 | 5 | 1995 | 2004 | |||
|
1 | 1.000 | 0.120 | 8 | 63064208 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.800 | 1.000 | 2 | 2010 | 2014 | |||
|
2 | 0.925 | 0.120 | 8 | 63065942 | frameshift variant | -/AA | ins | 9.8E-05 | 0.700 | 1.000 | 10 | 1995 | 2015 | ||||
|
2 | 0.925 | 0.120 | 8 | 63066056 | stop gained | G/A | snv | 2.4E-05 | 3.5E-05 | 0.700 | 1.000 | 7 | 1998 | 2015 | |||
|
1 | 1.000 | 0.120 | 8 | 63085847 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.120 | 8 | 63061345 | frameshift variant | T/- | delins | 0.700 | 1.000 | 6 | 1995 | 2015 | |||||
|
2 | 0.925 | 0.120 | 8 | 63065969 | frameshift variant | A/- | delins | 5.6E-05 | 0.700 | 1.000 | 4 | 1996 | 2004 | ||||
|
1 | 1.000 | 0.120 | 8 | 63086020 | start lost | A/G;T | snv | 0.700 | 1.000 | 2 | 1985 | 1999 | |||||
|
1 | 1.000 | 0.120 | 8 | 63073089 | splice acceptor variant | C/A;G;T | snv | 8.1E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 1998 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 63073064 | stop gained | TCC/AAT | mnv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 8 | 63065902 | splice donor variant | A/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 8 | 63086009 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 63072980 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 63066015 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 63086021 | start lost | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 63085904 | frameshift variant | CTTCCCGGGCCCGGCGCCGCAGCGCCGCCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 63085917 | frameshift variant | GCCGCAGCGCCGCCAGGCCCGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 63064312 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 63065925 | frameshift variant | CT/ACTTAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 8 | 63072954 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
17 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 |