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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2013 | 2016 | |||||
|
1 | 1.000 | 19 | 13455205 | missense variant | C/G | snv | 0.800 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 19 | 13257421 | missense variant | C/A | snv | 0.800 | 1.000 | 2 | 2016 | 2016 | ||||||
|
14 | 0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 1996 | 2017 | |||||
|
2 | 0.925 | 0.120 | 19 | 13245181 | splice donor variant | C/A | snv | 0.700 | 1.000 | 5 | 1999 | 2016 | |||||
|
5 | 0.851 | 0.160 | 19 | 13235693 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2006 | 2017 | |||||
|
2 | 0.925 | 0.120 | 19 | 13262790 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 19 | 13231850 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 19 | 13228767 | stop gained | GT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 19 | 13231717 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
4 | 0.851 | 0.160 | 19 | 13255217 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13335805 | splice donor variant | C/T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 19 | 13257514 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13298704 | frameshift variant | GCTCCGCCTTGTCCTCCGGACCCTCC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13298878 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13299314 | frameshift variant | CAC/GT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13300638 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 19 | 13303574 | missense variant | T/G | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 19 | 13303832 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13308496 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13317146 | frameshift variant | AACAATAGCAACACACAGCGTG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13317228 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13259661 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 13317198 | stop gained | C/T | snv | 0.700 | 0 |