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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2006 | 2009 | ||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
17 | 0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.776 | 0.440 | 6 | 24777296 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.827 | 0.200 | 1 | 1806514 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 0.200 | 13 | 101089846 | splice region variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
19 | 0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 12 | 23755726 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.240 | 18 | 55229003 | frameshift variant | -/ATTG | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 3 | 70977675 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 3 | 47846550 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 |