Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.280 | 1 | 11802962 | missense variant | C/G;T | snv | 4.0E-06; 5.6E-05 |
|
0.810 | 1.000 | 1 | 1995 | 2015 | ||||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 1 | 11787703 | 3 prime UTR variant | G/A | snv | 5.0E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 11787703 | 3 prime UTR variant | G/A | snv | 5.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 1 | 11787703 | 3 prime UTR variant | G/A | snv | 5.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 1996 | 1996 | ||||||||
|
0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 1 | 11801296 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 1 | 11792279 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 1 | 11794614 | intron variant | C/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.240 | 1 | 11794614 | intron variant | C/A | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 1 | 11794614 | intron variant | C/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |