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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.320 | 7 | 5528536 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.080 | 3 | 123319754 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 0.667 | 3 | 2009 | 2015 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 0.667 | 3 | 2009 | 2015 | ||||
|
7 | 0.925 | 0.040 | 19 | 29702747 | missense variant | T/C | snv | 2.3E-03 | 1.1E-03 | 0.710 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.925 | 0.080 | 19 | 29708415 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.882 | 0.040 | 19 | 29702966 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | X | 41524036 | splice acceptor variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | MT | 14597 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 10 | 133366990 | missense variant | G/A | snv | 2.6E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.040 | 10 | 133366967 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 |