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 | 1.000 | 0.200 | 10 | 100989285 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.200 | 10 | 100989352 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 6 | 151405236 | stop lost | C/G;T | snv | 2.0E-05; 4.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 6 | 151430154 | missense variant | T/C | snv | 2.0E-04 | 2.4E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.200 | 10 | 100989774 | splice acceptor variant | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 3 | 101565323 | missense variant | G/A;T | snv | 4.0E-06; 1.1E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 10 | 100989211 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 16 | 89550502 | stop gained | A/T | snv | 1.4E-04 | 9.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 17 | 18308367 | missense variant | T/C | snv | 6.4E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 3 | 193643609 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 6 | 151405787 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.200 | 8 | 102208239 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 2 | 227355756 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.080 | 16 | 89529575 | splice donor variant | -/T | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 3 | 101565595 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 11 | 85635669 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 22 | 42090742 | start lost | C/T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | MT | 13051 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | MT | 8839 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 22 | 42086238 | frameshift variant | CT/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 22 | 42087124 | missense variant | C/G;T | snv | 1.1E-04 | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 22 | 42086305 | stop gained | C/A;T | snv | 8.0E-06; 4.4E-05 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 22 | 42086261 | frameshift variant | A/- | delins | 1.1E-04 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 22 | 42086215 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 4 | 185145863 | missense variant | C/G | snv | 0.700 | 0 |