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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 1 | 65513597 | intron variant | T/A;C | snv | 0.17 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 65636397 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.100 | 0.903 | 31 | 2001 | 2018 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.100 | 1.000 | 10 | 2001 | 2018 | |||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.080 | 1.000 | 8 | 2001 | 2019 | ||||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.060 | 1.000 | 6 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 65438196 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 65605061 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 65480438 | intron variant | G/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 65616036 | missense variant | G/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||
|
2 | 1.000 | 0.080 | 1 | 65570511 | missense variant | C/G | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 1.000 | 0.080 | 1 | 65610269 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |