| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.770 | 0.875 | 8 | 2003 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.770 | 0.875 | 8 | 2003 | 2017 | |||||
|
4 | 1.000 | 0.120 | 17 | 7673767 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 7 | 55143404 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 112767386 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 7 | 55172999 | missense variant | A/C;G | snv | 4.0E-05 | 2.4E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 5 | 112839334 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 0.882 | 0.240 | 17 | 7673728 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 7 | 55205613 | missense variant | C/T | snv | 3.1E-04 | 3.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.776 | 0.080 | 19 | 45818249 | intron variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 13 | 28057413 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 5 | 112838608 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 7 | 5986802 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 96587587 | upstream gene variant | C/T | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 20 | 60847915 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.160 | 3 | 36996698 | frameshift variant | -/C | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 7 | 5977698 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 7 | 6004023 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 7 | 5989800 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 5987540 | missense variant | C/G | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 |