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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 8 | 13110812 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 49807197 | missense variant | C/T | snv | 1.5E-04 | 9.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 49807348 | missense variant | C/A;T | snv | 2.4E-05; 8.1E-04 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 13099960 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 32908395 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 6 | 166160758 | intron variant | G/A | snv | 0.77 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 19 | 49812733 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 22 | 46364140 | missense variant | G/A | snv | 5.9E-03 | 2.6E-02 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 115685423 | missense variant | G/T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 22 | 46409760 | frameshift variant | -/CA | delins | 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 22 | 46396724 | frameshift variant | CA/- | delins | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.080 | 1 | 11791276 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 34341696 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 1 | 160421171 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 1 | 160425122 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1.000 | 10 | 34331221 | missense variant | G/A;C;T | snv | 1.6E-05 | 0.800 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 22 | 46534853 | missense variant | G/A | snv | 1.2E-03 | 5.2E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 8 | 143810730 | missense variant | G/A | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 22 | 46378661 | missense variant | C/T | snv | 4.8E-04 | 4.3E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 10 | 34382893 | missense variant | C/A;T | snv | 8.0E-06; 5.6E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 10 | 34450451 | splice region variant | A/G | snv | 5.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 22 | 46364084 | missense variant | G/C | snv | 7.9E-03 | 3.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 10 | 34111495 | missense variant | C/T | snv | 1.3E-04 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 10 | 34336232 | missense variant | T/A | snv | 2.6E-04 | 7.7E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 14 | 58638335 | missense variant | C/T | snv | 6.0E-04 | 2.1E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 |