| 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 | 60903718 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60904794 | missense variant | G/A | snv | 8.0E-06 | 7.1E-06 | 0.800 | 1.000 | 3 | 2004 | 2010 | |||
|
1 | 1.000 | 0.160 | 5 | 60904795 | missense variant | C/T | snv | 7.1E-06 | 0.700 | 1.000 | 3 | 2004 | 2010 | ||||
|
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 | 60918266 | frameshift variant | ATGTA/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 60918350 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 5 | 60918364 | stop gained | G/C | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
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 | 60918390 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 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 | 60928896 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.200 | 5 | 60928961 | splice acceptor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 5 | 60944930 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60944972 | stop gained | C/A | snv | 7.6E-05 | 4.9E-05 | 0.710 | 1.000 | 2 | 2004 | 2010 | |||
|
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 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 |