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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 17 | 44349190 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 17 | 44351035 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 10 | 2006 | 2017 | ||||||
|
2 | 0.925 | 17 | 44352339 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 5 | 2006 | 2012 | ||||||
|
2 | 0.925 | 17 | 44351362 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 5 | 2006 | 2013 | ||||||
|
2 | 0.925 | 17 | 44351461 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 2006 | 2012 | ||||||
|
2 | 0.925 | 17 | 44349241 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 44351430 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 17 | 44351607 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 44349253 | frameshift variant | -/CCTG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 44351164 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 44350263 | frameshift variant | CAGT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 44350801 | splice donor variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 17 | 44351139 | frameshift variant | CACT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 17 | 44351759 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 44350251 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 44349167 | start lost | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 17 | 44349730 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 17 | 44349166 | start lost | T/C | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 44351081 | stop gained | TG/-;TGTG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 44350767 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 17 | 44352087 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 |