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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 16 | 56336846 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
11 | 0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 | 0.700 | 0 | ||||||
|
3 | 1.000 | 8 | 23007711 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
26 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
21 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 0.700 | 0 | ||||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
57 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.925 | 0.080 | 22 | 32498453 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
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 | 9 | 109137529 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1.000 | 9 | 109141360 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 9 | 109141466 | inframe deletion | CCT/- | delins | 2.0E-05 | 2.7E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1.000 | 9 | 109149675 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
8 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 11 | 72584619 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |