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 | 0.160 | 5 | 60902446 | missense variant | C/G | snv | 6.4E-05 | 0.710 | 1.000 | 3 | 2004 | 2010 | ||||
|
1 | 1.000 | 0.160 | 5 | 60902477 | missense variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
1 | 1.000 | 0.160 | 5 | 60902454 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
1 | 1.000 | 0.160 | 5 | 60898322 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2010 | ||||
|
1 | 1.000 | 0.160 | 5 | 60899728 | splice acceptor variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.160 | 5 | 60918264 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.160 | 5 | 60918367 | frameshift variant | TCT/CA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.160 | 5 | 60918350 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 5 | 60902509 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.200 | 12 | 5494689 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.160 | 5 | 60918266 | frameshift variant | ATGTA/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 5 | 60890964 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 5 | 60928863 | splice donor variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 5 | 60891002 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60898402 | splice acceptor variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60899666 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60899693 | stop gained | -/TCTCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60903718 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60918390 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60944930 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 5 | 60887522 | splice acceptor variant | T/C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 |