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 | 7 | 138771143 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.200 | 17 | 44251583 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.160 | 7 | 138747514 | missense variant | C/A;T | snv | 8.0E-05 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.160 | 7 | 138706689 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 138745255 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 3 | 2000 | 2018 | |||
|
9 | 0.790 | 0.200 | 17 | 44253327 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 0.020 | 1.000 | 2 | 2003 | 2019 | |||
|
2 | 0.925 | 0.280 | 7 | 138709633 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2002 | |||
|
1 | 1.000 | 0.160 | 7 | 138734135 | splice donor variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 138762435 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 138739541 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2002 | |||
|
1 | 1.000 | 0.160 | 7 | 138709745 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2006 | 2011 | |||
|
3 | 0.882 | 0.200 | 2 | 70959974 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.160 | 7 | 138715764 | stop gained | G/A | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 |