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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | X | 47181316 | frameshift variant | AG/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 2 | 55249467 | frameshift variant | CTTTTTTCACT/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 4 | 26406245 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
13 | 0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | X | 41216161 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.160 | X | 123634002 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | X | 54465532 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
8 | 0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.200 | 2 | 39012333 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.280 | 8 | 91078416 | frameshift variant | TTAAC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 15 | 25356778 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 11 | 61366050 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 2 | 72465341 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 1 | 154569536 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.120 | 10 | 248370 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 4 | 185144891 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 0.925 | X | 71555312 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 9 | 137106289 | stop gained | G/A | snv | 6.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 17 | 63917839 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 0.882 | 0.080 | 17 | 77402298 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |