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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
14 | 0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.925 | 0.080 | 8 | 18083991 | missense variant | T/G | snv | 4.5E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
15 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.080 | 1 | 247424227 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 3 | 193647145 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 102470325 | intron variant | T/C | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 89544732 | missense variant | G/A;T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 1.000 | 0.080 | 21 | 38445560 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2013 | 2014 |