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 | 0.080 | 15 | 40415454 | missense variant | C/T | snv | 6.4E-04 | 7.5E-04 | 0.800 | 1.000 | 10 | 1991 | 2017 | |||
|
1 | 1.000 | 0.080 | 15 | 40407640 | missense variant | G/A;C;T | snv | 2.8E-05; 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 9 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.080 | 15 | 40418190 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 9 | 1991 | 2017 | |||
|
1 | 1.000 | 0.080 | 15 | 40410699 | missense variant | G/A | snv | 2.8E-05 | 1.3E-04 | 0.800 | 1.000 | 8 | 1991 | 2017 | |||
|
2 | 0.925 | 0.080 | 15 | 40405952 | missense variant | T/C | snv | 0.700 | 1.000 | 6 | 1991 | 2017 | |||||
|
2 | 0.925 | 0.080 | 15 | 40411600 | missense variant | G/T | snv | 8.0E-06; 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 6 | 1991 | 2017 | |||
|
1 | 1.000 | 0.080 | 15 | 40418165 | missense variant | C/T | snv | 4.0E-06 | 4.2E-05 | 0.800 | 1.000 | 6 | 1991 | 2017 | |||
|
1 | 1.000 | 0.080 | 15 | 40416336 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 1991 | 2017 | |||
|
1 | 1.000 | 0.080 | 15 | 40416293 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1991 | 2017 | ||||
|
1 | 1.000 | 0.080 | 15 | 40410799 | splice donor variant | T/C | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 2000 | 2014 | |||
|
1 | 1.000 | 0.080 | 15 | 40407639 | missense variant | C/G;T | snv | 2.4E-05; 1.2E-05 | 0.700 | 1.000 | 3 | 2000 | 2007 | ||||
|
1 | 1.000 | 0.080 | 15 | 40411257 | splice acceptor variant | CA/GG | mnv | 0.700 | 1.000 | 3 | 2000 | 2011 | |||||
|
1 | 1.000 | 0.080 | 15 | 40418168 | frameshift variant | T/- | delins | 0.700 | 1.000 | 3 | 1991 | 2012 | |||||
|
1 | 1.000 | 0.080 | 15 | 40418175 | missense variant | G/A | snv | 1.4E-05 | 0.800 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.080 | 15 | 40414888 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 2 | 1998 | 2000 | |||||
|
1 | 1.000 | 0.080 | 15 | 40405819 | start lost | A/C;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 1990 | 1992 | ||||
|
1 | 1.000 | 0.080 | 15 | 40405820 | start lost | T/C;G | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 1990 | 1992 | |||
|
1 | 1.000 | 0.080 | 15 | 40410722 | frameshift variant | T/- | del | 7.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 40411258 | splice acceptor variant | A/C;G | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2007 | ||||
|
1 | 1.000 | 0.080 | 15 | 40410627 | splice acceptor variant | G/A | snv | 3.5E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 15 | 40418219 | frameshift variant | GGCGGCTGGTCATCGGCAGAGCCTTCAA/- | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 15 | 40414968 | frameshift variant | -/G | delins | 1.2E-05; 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.080 | 15 | 40418196 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 15 | 40410690 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 40415412 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 |