| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.200 | 10 | 53823256 | frameshift variant | -/ATAGTATT | delins | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 18178843 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 78469304 | stop gained | -/T | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 0.040 | 1.000 | 4 | 1998 | 2019 | ||||
|
3 | 0.882 | 0.200 | 11 | 78469304 | stop gained | A/C;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 13 | 20193170 | upstream gene variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 5 | 102477684 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 30884617 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 17 | 18144495 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 6302122 | missense variant | A/T | snv | 3.8E-03 | 3.5E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 18 | 46505856 | missense variant | C/A | snv | 6.4E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.120 | 6 | 33189443 | missense variant | C/A;T | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 12 | 80279038 | stop gained | C/A;T | snv | 3.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.200 | 11 | 78436786 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 3 | 122001823 | missense variant | C/G | snv | 1.1E-04 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.240 | 16 | 2496681 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 2 | 26484568 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 11 | 2570683 | frameshift variant | C/GG | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
4 | 0.882 | 0.240 | 10 | 71570884 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
9 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2015 | ||||
|
2 | 0.925 | 0.120 | 13 | 20189446 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.120 | 9 | 72694578 | stop gained | C/T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.200 | 21 | 34449584 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |