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 | 0.925 | 0.120 | 17 | 42322413 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 42329621 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2007 | 2016 | |||||
|
3 | 0.925 | 0.120 | 17 | 42329643 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2007 | 2014 | |||||
|
3 | 0.925 | 0.120 | 17 | 42322474 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2007 | 2016 | |||||
|
3 | 0.925 | 0.120 | 17 | 42322404 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2010 | 2018 | |||||
|
3 | 0.925 | 0.120 | 17 | 42333719 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2008 | 2012 | |||||
|
3 | 0.925 | 0.120 | 17 | 42316899 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
3 | 0.925 | 0.120 | 17 | 42339328 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 17 | 42317209 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42329423 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42325038 | inframe deletion | CAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42322407 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 42333736 | missense variant | A/T | snv | 0.700 | 0 |