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 | 0.827 | 0.160 | 17 | 50194032 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.120 | 17 | 50187041 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2007 | 2016 | |||||
|
2 | 0.925 | 0.120 | 17 | 50195227 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50194380 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 94418526 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50187975 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50189203 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94424427 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50185558 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50187121 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50196500 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50197012 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50195958 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50195296 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50194419 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50194141 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50193003 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50191853 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50191457 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50190381 | splice acceptor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50190360 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50190328 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50189878 | missense variant | C/T | snv | 2.5E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 17 | 50189521 | frameshift variant | A/- | del | 0.700 | 0 |