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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.790 | 0.160 | 2 | 240775863 | missense variant | G/A | snv | 0.800 | 1.000 | 6 | 2011 | 2017 | |||||
|
19 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | |||||
|
7 | 0.851 | 0.080 | 2 | 240789246 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
6 | 0.851 | 0.080 | 2 | 240788109 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
4 | 0.925 | 0.040 | 2 | 240786513 | missense variant | C/A | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
4 | 0.925 | 0.040 | 2 | 240786444 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 4 | 2011 | 2015 | ||||
|
6 | 0.851 | 0.120 | 2 | 240786339 | missense variant | C/G | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
7 | 0.851 | 0.080 | 2 | 240785066 | missense variant | T/G | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
10 | 0.790 | 0.120 | 2 | 240783780 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
4 | 0.925 | 0.080 | 2 | 240783791 | missense variant | A/T | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
8 | 0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 240783773 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 240773246 | missense variant | G/A;C | snv | 0.700 | 1.000 | 4 | 2011 | 2015 | |||||
|
3 | 0.882 | 0.080 | 2 | 240775889 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||
|
4 | 0.851 | 0.120 | 2 | 240788208 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 2 | 240788110 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 2 | 240720913 | splice donor variant | C/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 2 | 240762718 | splice donor variant | C/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 2 | 240723560 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 2 | 240785101 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.120 | 2 | 240757337 | frameshift variant | A/- | del | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 2 | 240769625 | splice donor variant | A/G;T | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.120 | 2 | 240797715 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 2 | 240783776 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |