| 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 | 0.925 | 0.120 | 2 | 113062547 | stop gained | C/A;T | snv | 4.0E-06; 2.9E-03 | 0.810 | 1.000 | 7 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 113062150 | missense variant | C/T | snv | 2.7E-04 | 9.8E-05 | 0.800 | 1.000 | 3 | 2011 | 2013 | |||
|
1 | 1.000 | 0.040 | 2 | 113060902 | missense variant | T/C | snv | 2.2E-04 | 2.1E-05 | 0.800 | 1.000 | 3 | 2011 | 2013 | |||
|
1 | 1.000 | 0.040 | 2 | 113062577 | missense variant | C/G;T | snv | 4.0E-05 | 0.800 | 1.000 | 3 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 113060943 | splice region variant | T/C | snv | 1.0E-03 | 2.0E-04 | 0.700 | 1.000 | 7 | 2013 | 2017 | |||
|
1 | 1.000 | 0.040 | 2 | 113062235 | missense variant | C/T | snv | 2.9E-04 | 1.3E-04 | 0.700 | 1.000 | 6 | 2013 | 2016 | |||
|
1 | 1.000 | 0.040 | 2 | 113060926 | missense variant | A/G | snv | 1.8E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 113062513 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 17 | 80184089 | missense variant | G/C | snv | 2.9E-03 | 1.7E-03 | 0.020 | 0.500 | 2 | 2014 | 2015 | |||
|
3 | 0.882 | 0.080 | 2 | 233286311 | intron variant | T/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 6 | 137875748 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 6 | 31577259 | missense variant | G/A;T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 17 | 80198545 | missense variant | C/G;T | snv | 4.0E-06; 2.3E-04 | 3.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 6 | 31271267 | missense variant | T/C | snv | 4.0E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 17 | 80183987 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 17 | 80183988 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 2 | 113059444 | synonymous variant | C/A;T | snv | 4.0E-06; 4.9E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 |