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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
19 | 0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 11 | 103256241 | splice donor variant | G/A;C | snv | 4.4E-06 | 0.700 | 0 | |||||||||
|
9 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
23 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2008 | |||
|
11 | 0.827 | 0.200 | 6 | 35509903 | frameshift variant | -/G | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
28 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
20 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | |||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
17 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.240 | 16 | 23406263 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.240 | 16 | 23452993 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
31 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
26 | 0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
34 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 1.000 | 0.200 | 6 | 43041036 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |