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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.120 | 2 | 71669207 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 3 | 8745580 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 1.000 | 16 | 2106222 | inframe deletion | CTC/- | delins | 0.700 | 0 | |||||||||
|
13 | 1.000 | 1 | 179917914 | missense variant | C/T | snv | 3.2E-05 | 5.6E-05 | 0.700 | 0 | |||||||
|
8 | 1.000 | 0.040 | 15 | 42403721 | intron variant | C/G | snv | 3.1E-03; 2.4E-05 | 3.1E-03 | 0.700 | 0 | ||||||
|
5 | 1.000 | 0.120 | 11 | 22262162 | missense variant | G/A;T | snv | 4.0E-06; 6.8E-05 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.120 | 6 | 129460287 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 1.000 | 0.120 | 2 | 71611481 | missense variant | T/C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.120 | 15 | 42410645 | stop gained | C/G;T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 1.000 | 0.120 | 17 | 63959275 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 17 | 50169246 | missense variant | G/A | snv | 1.1E-04 | 1.8E-04 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 2 | 71551635 | missense variant | T/C | snv | 2.9E-05 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 6 | 129486605 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 4 | 3493047 | missense variant | C/T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv | 0.800 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.200 | 11 | 22221100 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
22 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
21 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.807 | 0.120 | 1 | 155612098 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 |