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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.280 | 5 | 119452621 | missense variant | G/A;C | snv | 2.0E-04 | 0.800 | 1.000 | 12 | 1998 | 2017 | ||||
|
2 | 1.000 | 0.280 | 5 | 119509176 | missense variant | A/G;T | snv | 4.0E-06; 1.6E-05 | 0.800 | 1.000 | 12 | 1998 | 2015 | ||||
|
2 | 5 | 119475838 | missense variant | G/A;C | snv | 0.45 | 0.800 | 0 | |||||||||
|
2 | 1.000 | 0.280 | 5 | 119525259 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2014 | ||||
|
2 | 1.000 | 0.280 | 5 | 119525228 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2015 | ||||
|
1 | 5 | 119477461 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2006 | 2017 | |||||
|
2 | 1.000 | 0.280 | 5 | 119493820 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2013 | ||||
|
1 | 5 | 119475719 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.280 | 5 | 119452578 | start lost | G/A | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 5 | 119493864 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
2 | 1.000 | 0.280 | 5 | 119536458 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 5 | 119496546 | stop gained | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119514979 | splice acceptor variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 119479003 | frameshift variant | ACAG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119531316 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119506824 | stop gained | T/G | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119489275 | frameshift variant | TTTG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119514983 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||||
|
1 | 5 | 119527167 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119475871 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119506854 | frameshift variant | GATA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119499315 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119531344 | frameshift variant | GTAAA/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.280 | 5 | 119525970 | frameshift variant | -/GTGT | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 5 | 119478832 | splice acceptor variant | A/G;T | snv | 7.0E-06 | 0.700 | 0 |