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 | 0.851 | 0.080 | 17 | 10642825 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 17 | 10633590 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.080 | 17 | 10643215 | intron variant | CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.120 | 17 | 10654924 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 | 0.700 | 0 | |||||||
|
16 | 0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.160 | 17 | 10656089 | splice donor variant | C/T | snv | 1.2E-03 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 22 | 41178278 | inframe deletion | CAGCAGCAACAG/- | delins | 2.4E-04 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.160 | 15 | 48444574 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.882 | 0.080 | 20 | 45424323 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.882 | 0.080 | 20 | 45416579 | stop gained | G/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.040 | 4 | 88521653 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |