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 | 0.040 | 17 | 75840506 | splice donor variant | C/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 75843827 | non coding transcript exon variant | G/A | snv | 2.1E-04 | 0.700 | 1.000 | 7 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 75834093 | frameshift variant | CCCT/- | delins | 1.1E-04 | 7.0E-05 | 0.700 | 1.000 | 6 | 2006 | 2016 | |||
|
1 | 1.000 | 0.040 | 17 | 75836338 | splice donor variant | C/T | snv | 7.2E-05 | 6.3E-05 | 0.700 | 1.000 | 6 | 2003 | 2015 | |||
|
1 | 1.000 | 0.040 | 17 | 75840317 | stop gained | G/A;C | snv | 2.4E-05; 2.4E-05 | 0.700 | 1.000 | 5 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.040 | 17 | 75843173 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.040 | 17 | 75830592 | stop gained | G/A | snv | 1.8E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2012 | 2014 | |||
|
1 | 1.000 | 0.040 | 17 | 75835646 | splice donor variant | C/T | snv | 8.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 17 | 75836662 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 75831153 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 17 | 75830577 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 75836084 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 17 | 75836430 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 75828923 | frameshift variant | -/TCCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 75834356 | frameshift variant | ATCTCATGGC/TCGGACAAGGTA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 75835489 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 75834330 | stop gained | C/A;T | snv | 4.4E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 17 | 75835418 | inframe deletion | AGCGCGCTGCAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 75843204 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 75835502 | frameshift variant | -/A | delins | 0.700 | 0 |