| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 19 | 18868916 | missense variant | C/T | snv | 7.2E-06 | 0.700 | 0 | |||||||
|
15 | 0.742 | 0.120 | 1 | 26697152 | frameshift variant | -/GCCGCCTCCCTCCTCCAGCGCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 105788866 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 105802291 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 8 | 105419192 | missense variant | A/C;G | snv | 4.0E-06; 2.7E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 22 | 19761154 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.240 | X | 137566740 | missense variant | G/A;T | snv | 2.6E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 8 | 105801714 | missense variant | G/A;T | snv | 3.4E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | X | 137566789 | missense variant | C/T | snv | 1.1E-04 | 3.7E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 8 | 105788864 | missense variant | A/G | snv | 4.5E-04 | 4.7E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.080 | 6 | 42925677 | missense variant | G/A | snv | 2.0E-02 | 1.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 17 | 48530455 | synonymous variant | C/T | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.080 | 4 | 110618487 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 15 | 89750880 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 5 | 88823746 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |