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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 18 | 31519867 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 0 | 2006 | 2011 | ||||
|
2 | 0.925 | 0.080 | 18 | 31519858 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 0 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 31536298 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 0 | 2006 | 2017 | ||||
|
2 | 0.925 | 0.080 | 18 | 31545820 | missense variant | G/A;C;T | snv | 2.4E-05; 1.2E-05 | 0.800 | 1.000 | 0 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 31545914 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 31542772 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 31546144 | frameshift variant | -/GCTA | delins | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 31546202 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
2 | 0.925 | 0.080 | 18 | 31541191 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2006 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 31546425 | stop gained | C/A;T | snv | 6.8E-05; 1.2E-05 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.080 | 18 | 31521244 | splice donor variant | G/A;C;T | snv | 4.2E-06; 1.3E-05; 4.2E-06 | 0.700 | 1.000 | 3 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 31546308 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 31522180 | stop gained | TCCTCC/- | del | 0.700 | 1.000 | 2 | 2006 | 2010 | |||||
|
1 | 1.000 | 0.080 | 18 | 31498297 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 18 | 31538922 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 31524792 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 31524554 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 18 | 31519887 | missense variant | G/A | snv | 1.9E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 18 | 31524447 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 31521228 | frameshift variant | TGAGT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 18 | 31546441 | frameshift variant | AGAG/-;AG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 18 | 31521245 | splice donor variant | T/C | snv | 8.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 31536264 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 31522250 | splice donor variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 31521213 | frameshift variant | -/T | delins | 2.1E-05 | 0.700 | 0 |