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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.763 | 0.240 | 1 | 207616743 | missense variant | C/A;G | snv | 8.0E-06; 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.240 | 11 | 33710247 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | X | 154353704 | missense variant | C/T | snv | 4.5E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.200 | X | 154368081 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.040 | X | 15331876 | missense variant | G/A | snv | 3.0E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
9 | 0.790 | 0.240 | 9 | 5072541 | missense variant | G/A;T | snv | 2.8E-05; 6.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.240 | X | 15331662 | missense variant | T/C | snv | 9.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
24 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2017 | 2017 |