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 | 0.080 | 11 | 5225710 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.080 | 11 | 5226940 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 5226996 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 11 | 5226937 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 11 | 5226994 | frameshift variant | -/C | delins | 2.5E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.080 | 11 | 5226924 | splice region variant | A/G;T | snv | 1.2E-04 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 5227002 | frameshift variant | T/- | del | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 11 | 5226780 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 11 | 5226975 | stop gained | C/T | snv | 8.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 11 | 5226763 | frameshift variant | AGAA/- | delins | 0.700 | 0 | ||||||||
|
7 | 1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 2 | 60493622 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60493454 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 6 | 71067268 | intergenic variant | G/A | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 5 | 113387870 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 14 | 56732364 | upstream gene variant | C/T | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 109419337 | intron variant | T/C | snv | 3.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 105998818 | intergenic variant | T/C | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 2 | 60491939 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 2 | 60496951 | intron variant | T/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60496952 | intron variant | G/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 5008473 | downstream gene variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 122088578 | upstream gene variant | T/C | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 7603506 | intergenic variant | G/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 |