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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.120 | 6 | 79042902 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
21 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
19 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
19 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
35 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
16 | 0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
25 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | 20 | 32433481 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
33 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.320 | 16 | 89280070 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.360 | 8 | 60855993 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 10 | 49664880 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 |