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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.200 | 11 | 61766173 | frameshift variant | GCACCGGGCCCCCCATC/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 11 | 32417631 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.320 | 13 | 38851093 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 67721937 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 1999 | 2002 | |||||
|
3 | 0.882 | 0.200 | 8 | 142876242 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
4 | 0.882 | 0.200 | 10 | 102834074 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
3 | 0.882 | 0.200 | 10 | 102832626 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
3 | 0.882 | 0.200 | X | 67717595 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
1 | 1.000 | 0.160 | 1 | 119514302 | missense variant | C/A;T | snv | 4.0E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
4 | 0.851 | 0.160 | X | 67711453 | missense variant | C/A | snv | 1.1E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.882 | 0.240 | 11 | 32428521 | missense variant | G/A;T | snv | 3.9E-04; 2.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
7 | 0.790 | 0.200 | 2 | 31526224 | missense variant | C/T | snv | 2.3E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 |