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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.280 | X | 108598793 | missense variant | G/A | snv | 8.7E-05 | 4.7E-05 | 0.700 | 0 | ||||||
|
3 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.240 | 16 | 2102397 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 16 | 2103746 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 16 | 2111647 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
6 | 0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 16 | 2091794 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.200 | 5 | 177404231 | missense variant | G/C;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | 16 | 8811099 | stop gained | G/A;T | snv | 1.1E-04; 5.2E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
14 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.040 | 3 | 184346710 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.040 | 3 | 184356994 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.040 | 3 | 184359119 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
26 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.160 | 1 | 42738421 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.280 | X | 108597479 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.040 | 2 | 227010441 | missense variant | C/T | snv | 7.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.040 | 2 | 227059468 | missense variant | C/G | snv | 7.2E-05 | 3.5E-05 | 0.700 | 0 |