| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.320 | 4 | 186555751 | upstream gene variant | T/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 18 | 60161404 | upstream gene variant | G/A | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 2 | 165749801 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 15 | 90537155 | intron variant | A/G | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.160 | 10 | 111079821 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
22 | 46216775 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
22 | 46226097 | intron variant | T/C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.200 | 1 | 156138593 | missense variant | G/A | snv | 2.1E-04 | 7.7E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 2 | 240875132 | missense variant | C/T | snv | 1.2E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |