| 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 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv |
|
0.710 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.050 | 0.600 | 5 | 2007 | 2013 | ||||||||
|
0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.827 | 0.160 | 17 | 39724008 | missense variant | G/A;C;T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2018 | |||||||||
|
0.882 | 0.200 | 17 | 39706999 | missense variant | G/A | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.827 | 0.120 | 17 | 39726987 | missense variant | G/A | snv | 8.4E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
17 | 39727880 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 17 | 39708413 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
17 | 39715810 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
17 | 39707018 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.080 | 17 | 39715823 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 17 | 39710398 | missense variant | C/T | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 17 | 39708351 | missense variant | A/G | snv | 6.8E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.160 | 17 | 39707034 | missense variant | G/A | snv | 3.7E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
17 | 39727376 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 39727763 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |