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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.827 | 0.200 | 17 | 58695189 | stop gained | G/A;C | snv | 4.1E-06 | 0.700 | 1.000 | 7 | 2012 | 2018 | ||||
|
4 | 0.882 | 0.200 | 17 | 58703201 | stop gained | C/T | snv | 4.0E-05 | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||
|
5 | 0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||
|
4 | 0.882 | 0.200 | 17 | 58695182 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2018 | ||||
|
2 | 1.000 | 0.200 | 17 | 58724069 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 58709884 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.200 | 17 | 58696858 | splice donor variant | G/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.200 | 17 | 58692740 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.200 | 17 | 58720795 | frameshift variant | TTGTTCCTGC/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 58709992 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 58732517 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 58703280 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 |