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 | 4 | 39273029 | missense variant | G/A | snv | 5.5E-05 | 1.5E-04 | 0.800 | 1.000 | 5 | 2013 | 2017 | ||||
|
6 | 0.807 | 0.200 | 4 | 39231943 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 | 0.800 | 1.000 | 2 | 2013 | 2013 | |||
|
1 | 1.000 | 4 | 39218103 | missense variant | G/C | snv | 7.0E-06 | 0.800 | 1.000 | 2 | 2013 | 2013 | |||||
|
1 | 1.000 | 4 | 39189694 | missense variant | T/A | snv | 8.1E-06 | 0.800 | 0 | ||||||||
|
2 | 0.925 | 4 | 39228692 | splice donor variant | T/C | snv | 2.2E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
1 | 1.000 | 4 | 39205660 | missense variant | C/G;T | snv | 4.1E-06; 2.9E-05 | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
2 | 0.925 | 4 | 39274945 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 4 | 39205626 | frameshift variant | -/A | delins | 3.6E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 2013 | 2013 | |||
|
1 | 1.000 | 4 | 39194579 | missense variant | G/A | snv | 8.1E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 4 | 39185807 | missense variant | G/C;T | snv | 6.2E-06 | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
2 | 0.925 | 4 | 39215958 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 4 | 39199476 | splice acceptor variant | A/G | snv | 4.1E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 4 | 39205184 | frameshift variant | T/-;TT | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 4 | 39273062 | splice donor variant | G/A;T | snv | 2.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
13 | 0.807 | 0.200 | 4 | 39218060 | missense variant | C/G | snv | 0.700 | 0 |