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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2010 | 2015 | |||||||||
|
0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2010 | |||||||||
|
3 | 188866891 | intron variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 3 | 188371466 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 188407332 | intron variant | C/T | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.200 | 3 | 188402113 | intron variant | G/A | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 188369840 | intron variant | C/T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 3 | 188411191 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
3 | 188269895 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 3 | 188370473 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 188370330 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.040 | 3 | 188370530 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 3 | 188370530 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 3 | 188370530 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 3 | 188403231 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 3 | 188403231 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 188341655 | splice region variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.120 | 3 | 188407332 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 3 | 188407332 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 3 | 188415730 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 3 | 188415730 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
3 | 188609231 | missense variant | C/G;T | snv | 4.0E-06; 1.9E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 188609231 | missense variant | C/G;T | snv | 4.0E-06; 1.9E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 3 | 188287160 | intron variant | C/T | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |