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 | 0.240 | 20 | 10658611 | missense variant | C/T | snv | 0.800 | 1.000 | 17 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.120 | 20 | 10658612 | missense variant | G/A | snv | 0.800 | 1.000 | 14 | 1997 | 2013 | |||||
|
1 | 1.000 | 0.120 | 20 | 10672978 | missense variant | A/G | snv | 0.800 | 1.000 | 14 | 1997 | 2013 | |||||
|
1 | 1.000 | 0.120 | 20 | 10672702 | missense variant | G/C | snv | 0.700 | 1.000 | 14 | 1997 | 2013 | |||||
|
1 | 1.000 | 0.120 | 20 | 10672721 | missense variant | G/A | snv | 0.700 | 1.000 | 14 | 1997 | 2013 | |||||
|
1 | 1.000 | 0.120 | 20 | 10658674 | missense variant | G/C | snv | 0.700 | 1.000 | 14 | 1997 | 2013 | |||||
|
1 | 1.000 | 0.120 | 20 | 10641671 | missense variant | C/G | snv | 0.700 | 1.000 | 14 | 1997 | 2013 | |||||
|
1 | 1.000 | 0.120 | 20 | 10672991 | missense variant | C/T | snv | 0.700 | 1.000 | 14 | 1997 | 2013 | |||||
|
3 | 0.925 | 0.120 | 20 | 10645245 | frameshift variant | ACTG/- | delins | 0.700 | 1.000 | 5 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.120 | 20 | 10640815 | frameshift variant | ACTT/- | delins | 0.700 | 1.000 | 4 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.120 | 20 | 10656450 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.120 | 20 | 10642587 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.120 | 20 | 10641155 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 2 | 1999 | 2015 | ||||
|
1 | 1.000 | 0.120 | 20 | 10650325 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.120 | 20 | 10641588 | frameshift variant | AGGGGTGGACGAAGC/TGCCCTGG | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 20 | 10649102 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10641536 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10641688 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10658619 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10641532 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
27 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 20 | 10641194 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10647966 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10652205 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10658528 | missense variant | A/G | snv | 0.700 | 0 |