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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 2 | 47806279 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2006 | 2016 | ||||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.160 | 3 | 37025817 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.160 | 2 | 47805628 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 2 | 47476388 | stop gained | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.160 | 3 | 37007050 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47480695 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv | 0.090 | 0.889 | 9 | 2007 | 2019 | |||||
|
2 | 0.925 | 0.160 | 3 | 37025666 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.160 | 2 | 47805027 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799597 | inframe deletion | CTT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 7 | 5986795 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 5973455 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 47475244 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 36993549 | start lost | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 2 | 47806490 | frameshift variant | -/GAGACTA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47806652 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47799109 | frameshift variant | AAAGA/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins | 0.700 | 1.000 | 3 | 1999 | 2004 | |||||
|
2 | 1.000 | 0.160 | 2 | 47475166 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47475100 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.160 | 2 | 47466802 | frameshift variant | C/- | delins | 0.700 | 0 |