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 | 0.925 | 0.120 | X | 136659390 | missense variant | C/A;T | snv | 0.820 | 1.000 | 18 | 1993 | 2019 | |||||
|
1 | 1.000 | 0.120 | X | 136659093 | missense variant | T/A;C | snv | 0.810 | 1.000 | 13 | 1993 | 2019 | |||||
|
1 | 1.000 | 0.120 | X | 136648355 | missense variant | T/A;G | snv | 0.800 | 1.000 | 14 | 1992 | 2019 | |||||
|
1 | 1.000 | 0.120 | X | 136656377 | missense variant | C/A;T | snv | 5.5E-06 | 0.800 | 1.000 | 13 | 1993 | 2019 | ||||
|
1 | 1.000 | 0.120 | X | 136659309 | missense variant | G/T | snv | 0.800 | 1.000 | 12 | 1993 | 2019 | |||||
|
1 | 1.000 | 0.120 | X | 136659332 | missense variant | G/C | snv | 0.800 | 1.000 | 12 | 1993 | 2019 | |||||
|
1 | 1.000 | 0.120 | X | 136659047 | missense variant | T/G | snv | 0.800 | 1.000 | 12 | 1993 | 2019 | |||||
|
1 | 1.000 | 0.120 | X | 136648279 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.120 | X | 136659069 | missense variant | C/A | snv | 0.700 | 1.000 | 12 | 1993 | 2019 | |||||
|
1 | 1.000 | 0.120 | X | 136659399 | missense variant | G/A | snv | 5.5E-06 | 0.700 | 1.000 | 12 | 1993 | 2019 | ||||
|
1 | 1.000 | 0.120 | X | 136659138 | missense variant | A/G | snv | 9.5E-06 | 0.700 | 1.000 | 12 | 1993 | 2019 | ||||
|
1 | 1.000 | 0.120 | X | 136659060 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 1993 | 2019 | |||||
|
1 | 1.000 | 0.120 | X | 136654400 | frameshift variant | GAAA/- | delins | 0.700 | 1.000 | 4 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 136659050 | missense variant | G/A;C | snv | 9.5E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | X | 136650398 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | X | 136659261 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | X | 136659048 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 136654386 | frameshift variant | AAAGAGGAGAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 136650295 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 12 | 8606951 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | X | 136659287 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | X | 136659284 | missense variant | G/A | snv | 1.1E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |