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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 11 | 2776032 | missense variant | C/A;T | snv | 1.1E-05; 1.1E-05 | 0.700 | 1.000 | 10 | 1997 | 2016 | ||||
|
3 | 0.925 | 0.120 | 11 | 2571391 | missense variant | C/T | snv | 4.0E-06 | 1.0E-04 | 0.700 | 1.000 | 5 | 2005 | 2016 | |||
|
4 | 0.925 | 0.200 | 11 | 2768861 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.120 | 11 | 2776991 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.080 | 11 | 2445213 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 11 | 2572850 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 21 | 34449497 | stop gained | G/A;T | snv | 2.0E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 |