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 | 154773152 | missense variant | C/T | snv | 0.750 | 1.000 | 10 | 1999 | 2015 | |||||
|
2 | 0.925 | 0.120 | 5 | 178149715 | stop lost | A/T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | X | 154765474 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.200 | 14 | 24240642 | stop gained | T/A;C | snv | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 14 | 24240636 | missense variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | X | 154765486 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.360 | 17 | 8229946 | inframe deletion | CAA/- | delins | 2.0E-05 | 1.3E-04 | 0.700 | 1.000 | 6 | 2012 | 2013 | |||
|
2 | 0.925 | 0.120 | X | 154765466 | inframe deletion | CTT/- | delins | 0.700 | 1.000 | 5 | 1998 | 2015 | |||||
|
2 | 0.925 | 0.360 | 17 | 8237440 | frameshift variant | TTCT/- | delins | 2.0E-04 | 1.7E-04 | 0.700 | 1.000 | 5 | 2012 | 2013 | |||
|
2 | 0.925 | 0.120 | X | 154765505 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 1999 | 2014 | |||||
|
2 | 0.925 | 0.360 | 17 | 8229943 | missense variant | G/A | snv | 5.6E-05 | 4.9E-05 | 0.700 | 1.000 | 4 | 2012 | 2013 | |||
|
4 | 0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 | 0.700 | 1.000 | 4 | 2013 | 2015 | ||||
|
4 | 0.851 | 0.160 | 20 | 63695619 | missense variant | G/A | snv | 1.6E-04 | 7.7E-05 | 0.700 | 1.000 | 3 | 2013 | 2015 | |||
|
2 | 0.925 | 0.120 | 20 | 63693160 | missense variant | C/A;G;T | snv | 1.2E-05; 4.0E-06; 4.0E-05 | 0.700 | 1.000 | 3 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.120 | 20 | 63659506 | splice donor variant | T/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
3 | 0.882 | 0.360 | 17 | 8230396 | frameshift variant | G/-;GG | delins | 3.8E-04 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 0.925 | 0.360 | 17 | 8230562 | splice donor variant | C/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
3 | 0.882 | 0.120 | 20 | 63687765 | missense variant | G/T | snv | 4.9E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2013 | |||
|
2 | 0.925 | 0.360 | 17 | 8237392 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 0.882 | 0.120 | 20 | 63692960 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 20 | 63693247 | stop gained | C/A;T | snv | 8.0E-06; 7.2E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 20 | 63690442 | splice donor variant | G/A;C | snv | 4.5E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 20 | 63687936 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 1279410 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 1266537 | splice acceptor variant | T/C;G | snv | 0.700 | 0 |