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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 12 | 23740986 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.400 | 19 | 1220707 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.200 | 10 | 43111219 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.280 | 13 | 77900593 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
38 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.790 | 0.320 | 13 | 77903538 | missense variant | C/T | snv | 1.3E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 1.000 | 3 | 2008 | 2018 | |||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.763 | 0.200 | 22 | 37084836 | missense variant | C/T | snv | 6.4E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.763 | 0.200 | 22 | 37086414 | missense variant | T/C | snv | 5.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 3 | 133756968 | missense variant | G/A | snv | 5.2E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 20 | 6786464 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
15 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.240 | 22 | 37099011 | intron variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 |