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 | 15 | 92953496 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||||
|
1 | 1.000 | 15 | 92972380 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||||
|
1 | 1.000 | 15 | 93020140 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
1 | 1.000 | 15 | 93020076 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 15 | 92948970 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 15 | 92927289 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92942894 | frameshift variant | TGGTG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92967419 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 15 | 92972337 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 15 | 92929038 | synonymous variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92939719 | splice donor variant | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92944415 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92944443 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92956532 | stop gained | T/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92979171 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92979192 | stop gained | GCCAAAAAGAAGATGGT/TG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92939654 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92941868 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92944495 | frameshift variant | ATAG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92948956 | stop gained | TG/AAGTCTGAA | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92978363 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 93000609 | stop gained | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92955512 | splice donor variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92927310 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 15 | 92956457 | splice acceptor variant | A/C | snv | 0.700 | 0 |