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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
2 | 177231705 | missense variant | G/A | snv | 3.2E-05 | 4.9E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 |
|
0.020 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 |
|
0.020 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 |
|
0.020 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
2 | 177231657 | missense variant | G/A | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
1.000 | 0.040 | 2 | 177234112 | missense variant | C/T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 177254568 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 2 | 177232545 | synonymous variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 177231543 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 2 | 177233301 | missense variant | A/T | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 177253424 | intron variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 177248756 | intron variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 2 | 177261818 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 2 | 177268260 | intron variant | G/T | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 177234189 | missense variant | C/T | snv | 1.2E-03 | 4.4E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.320 | 2 | 177265345 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 177265345 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.320 | 2 | 177265345 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.320 | 2 | 177265345 | intron variant | T/C | snv | 0.29 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 177265345 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 177265345 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.320 | 2 | 177265345 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |