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 | 0.080 | 19 | 38710286 | missense variant | A/G | snv | 7.0E-06 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
2 | 0.925 | 0.080 | 19 | 38710299 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2008 | 2019 | |||||
|
2 | 0.925 | 0.080 | 2 | 88595599 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 19 | 38717102 | missense variant | G/A | snv | 1.2E-02 | 9.6E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 10 | 100781314 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 19 | 35842487 | missense variant | G/A | snv | 2.3E-03 | 1.5E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 14 | 104703420 | frameshift variant | GC/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 11 | 101504634 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 11 | 101453062 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 19 | 38710307 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 4 | 73416326 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 19 | 45777777 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 2 | 227022069 | missense variant | T/A | snv | 8.5E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 19 | 35831368 | synonymous variant | C/T | snv | 0.40 | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 11 | 32399873 | intron variant | T/C | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 14 | 104703428 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 101583461 | missense variant | G/A | snv | 8.2E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | X | 111687924 | missense variant | AC/TT | mnv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 35831699 | missense variant | T/C | snv | 9.7E-02 | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 1 | 179575806 | missense variant | G/A | snv | 2.8E-03 | 4.2E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 179551346 | missense variant | G/A | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.080 | 10 | 100806499 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 14 | 104714452 | missense variant | T/C;G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 1 | 155187356 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |