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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | X | 32849737 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 13 | 32443086 | frameshift variant | T/-;TT | delins | 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 | |||||||||
|
1 | 1 | 228276699 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 10 | 69246212 | missense variant | C/T | snv | 9.9E-05 | 1.2E-04 | 0.700 | 0 | ||||||||
|
1 | 3 | 49014077 | missense variant | G/A | snv | 3.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
7 | X | 77633315 | missense variant | C/A | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 55073913 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 24814131 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 153939040 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 184717581 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 42659795 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 4 | 140396131 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 4 | 140405975 | missense variant | G/T | snv | 0.700 | 0 |