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 | 0.280 | 1 | 42929008 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 1999 | 2018 | |||||
|
5 | 0.776 | 0.360 | 1 | 42930766 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2002 | 2009 | |||||
|
6 | 0.790 | 0.360 | 1 | 42929009 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42929694 | missense variant | T/C | snv | 1.2E-05 | 5.6E-05 | 0.700 | 1.000 | 13 | 1999 | 2018 | |||
|
2 | 0.925 | 0.080 | 1 | 42927118 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 1999 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 42929917 | missense variant | C/T | snv | 0.700 | 1.000 | 13 | 1999 | 2018 | |||||
|
7 | 0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
5 | 0.827 | 0.360 | 1 | 42943323 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.807 | 0.120 | 1 | 42929018 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 1 | 42929637 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.360 | 1 | 42927148 | missense variant | G/A;T | snv | 2.8E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 42928964 | frameshift variant | CAACCCGCCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42929728 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 1 | 42927622 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42929923 | inframe deletion | TCTCGGGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42930842 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.360 | 1 | 42931159 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 1 | 42929918 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42943240 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42927794 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42943312 | splice acceptor variant | CGTCAGCTTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42929712 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42929613 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 42930856 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.360 | 1 | 42929885 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 |