| 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 | 20 | 63688578 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 20 | 63689115 | missense variant | G/A;T | snv | 8.1E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63691769 | frameshift variant | TCTG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63662608 | frameshift variant | AA/- | del | 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63695098 | stop gained | C/G;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63667503 | stop gained | C/G;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63678347 | splice donor variant | G/T | snv | 8.3E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 20 | 63691799 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 20 | 63695064 | splice acceptor variant | A/G | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.120 | 20 | 63687765 | missense variant | G/T | snv | 4.9E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 2009 | 2016 | |||
|
2 | 0.925 | 0.120 | 20 | 63693160 | missense variant | C/A;G;T | snv | 1.2E-05; 4.0E-06; 4.0E-05 | 0.800 | 1.000 | 6 | 2013 | 2017 | ||||
|
4 | 0.851 | 0.120 | 20 | 63693247 | stop gained | C/A;T | snv | 8.0E-06; 7.2E-05 | 0.700 | 1.000 | 4 | 2013 | 2017 | ||||
|
3 | 0.882 | 0.120 | 20 | 63692960 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 20 | 63695619 | missense variant | G/A | snv | 1.6E-04 | 7.7E-05 | 0.700 | 1.000 | 6 | 2013 | 2015 | |||
|
4 | 0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 | 0.700 | 1.000 | 5 | 2013 | 2017 |