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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | X | 20161641 | splice donor variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 166058626 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 12 | 51788702 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 9 | 137163846 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 10 | 49664880 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
18 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.200 | 6 | 79026079 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 10 | 49627735 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 2 | 166036051 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
7 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.882 | 0.080 | 2 | 166056450 | stop gained | A/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 6 | 29610981 | missense variant | C/T | snv | 4.1E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 6 | 29613344 | missense variant | C/T | snv | 1.1E-03 | 1.5E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.080 | 5 | 162149412 | 3 prime UTR variant | C/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 165292743 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 2 | 165344371 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.742 | 0.240 | 5 | 162101274 | synonymous variant | C/T | snv | 0.28 | 0.31 | 0.050 | 0.800 | 5 | 2012 | 2018 |