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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
33 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.160 | X | 53412950 | inframe deletion | TCT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 17 | 50571953 | inframe deletion | TTC/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.120 | 3 | 47848237 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
11 | 0.827 | 0.240 | 1 | 23848684 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.200 | X | 41343249 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 5 | 37052453 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 3 | 181794163 | intron variant | C/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 108558159 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 0.925 | 0.120 | 18 | 63257737 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1 | 118961661 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |