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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.851 | 0.120 | 14 | 101986552 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
62 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
27 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
37 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
44 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 0.700 | 0 | ||||||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
20 | 0.776 | 0.240 | 14 | 87968393 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 |