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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | X | 54465522 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2000 | 2011 | |||||
|
1 | 1.000 | 0.160 | X | 54456233 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2000 | 2011 | |||||
|
2 | 0.925 | 0.200 | X | 54467901 | missense variant | C/T | snv | 7.9E-06 | 9.5E-06 | 0.710 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.160 | X | 54446267 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 54467796 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 54465797 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54467883 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54470224 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54495155 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54470172 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54455497 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | X | 54470715 | frameshift variant | G/-;GG | delins | 0.700 | 0 |