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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
9 | 0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 0.925 | 21 | 37505442 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37486513 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37490244 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
7 | 0.925 | 21 | 37490393 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | X | 32849737 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
8 | 0.882 | X | 110264571 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 13 | 32443086 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||||
|
7 | 0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 | 0.700 | 0 | |||||||
|
1 | X | 48962751 | missense variant | G/A | snv | 2.9E-05 | 0.700 | 0 | |||||||||
|
1 | 16 | 30669598 | missense variant | C/G | snv | 4.2E-06 | 2.8E-05 | 0.700 | 0 | ||||||||
|
1 | 19 | 1091909 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 22 | 49883834 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 18 | 12673471 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 6 | 99443648 | stop gained | C/A | snv | 1.3E-04 | 1.2E-04 | 0.700 | 0 | ||||||||
|
1 | 20 | 34996388 | missense variant | G/A | snv | 8.3E-06 | 0.700 | 0 | |||||||||
|
1 | 12 | 110163027 | missense variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||||
|
1 | 5 | 171436234 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 1 | 19155051 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 20 | 35869519 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 22 | 20982433 | missense variant | G/C;T | snv | 5.1E-06 | 0.700 | 0 |