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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 6 | 5369001 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2012 | 2018 | |||||
|
2 | 1.000 | 6 | 5545261 | missense variant | T/C | snv | 1.2E-05 | 0.800 | 1.000 | 2 | 2012 | 2012 | |||||
|
2 | 1.000 | 6 | 5613275 | missense variant | A/T | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||
|
1 | 1.000 | 6 | 5545179 | splice acceptor variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 6 | 5369037 | missense variant | C/A;T | snv | 8.8E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 6 | 5368973 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 6 | 5545200 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 6 | 5613185 | missense variant | C/T | snv | 1.4E-04 | 1.0E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 6 | 5545248 | missense variant | G/A;T | snv | 7.6E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 6 | 5368823 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 6 | 5613266 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 6 | 5368762 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 6 | 5369027 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 6 | 5369100 | missense variant | T/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 6 | 5404596 | missense variant | C/T | snv | 2.6E-04 | 2.7E-04 | 0.700 | 0 |