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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 0.667 | 3 | 2016 | 2019 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 1.000 | 0.080 | 3 | 49357600 | missense variant | G/A | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
8 | 0.807 | 0.200 | 11 | 17387595 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
12 | 0.742 | 0.440 | 11 | 34461361 | synonymous variant | C/T | snv | 0.25 | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 |