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 | 1.000 | 0.080 | 1 | 32893848 | missense variant | G/A | snv | 4.9E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1 | 32888928 | synonymous variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 1 | 32889110 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 1 | 32889123 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 2 | 72888457 | missense variant | A/G | snv | 5.6E-05 | 5.6E-05 | 0.700 | 1.000 | 5 | 2001 | 2013 | |||
|
3 | 1.000 | 0.040 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.200 | 2 | 72891502 | stop gained | A/T | snv | 8.0E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 2 | 190208898 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.280 | 2 | 199328709 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
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 | |||||
|
5 | 0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 | 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 | |||||||
|
37 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.080 | 3 | 25593603 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 0.700 | 0 |