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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 5 | 112707526 | 5 prime UTR variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112707527 | 5 prime UTR variant | T/C | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 112707528 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112754904 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112754904 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 5 | 112754919 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 1.000 | 4 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 112754964 | frameshift variant | AA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112754995 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112755021 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112755026 | splice donor variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2010 | ||||
|
2 | 1.000 | 0.120 | 5 | 112766325 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 2 | 2007 | 2010 | |||||
|
3 | 0.925 | 0.120 | 5 | 112766335 | frameshift variant | ACAA/- | delins | 0.700 | 1.000 | 3 | 2009 | 2016 | |||||
|
3 | 0.925 | 0.120 | 5 | 112766410 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2007 | 2013 | |||||
|
3 | 0.925 | 0.120 | 5 | 112766412 | splice donor variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 1.000 | 0.120 | 5 | 112767187 | splice acceptor variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2013 | ||||
|
2 | 1.000 | 0.120 | 5 | 112767188 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112767198 | frameshift variant | ATAG/- | delins | 0.700 | 1.000 | 1 | 1993 | 1993 | |||||
|
1 | 1.000 | 0.120 | 5 | 112767217 | frameshift variant | T/- | del | 0.700 | 1.000 | 2 | 2007 | 2010 | |||||
|
2 | 1.000 | 0.120 | 5 | 112767234 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112767249 | frameshift variant | GT/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112767256 | stop gained | T/A;C;G | snv | 4.0E-06; 4.0E-05 | 0.700 | 1.000 | 4 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.120 | 5 | 112767264 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.120 | 5 | 112767318 | stop gained | C/A | snv | 0.700 | 1.000 | 2 | 2001 | 2013 | |||||
|
1 | 1.000 | 0.120 | 5 | 112767354 | frameshift variant | A/- | delins | 0.700 | 0 |