| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 6 | 1339954 | intergenic variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 13 | 90145067 | intergenic variant | C/G | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.080 | 20 | 54200178 | TF binding site variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.160 | 13 | 90145678 | intergenic variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 4 | 102620848 | downstream gene variant | G/T | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.929 | 14 | 2003 | 2019 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.070 | 1.000 | 7 | 2008 | 2013 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.040 | 1.000 | 4 | 2008 | 2013 | |||||||
|
0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 |
|
0.030 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 87566646 | intron variant | G/A | snv | 0.39 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 87560614 | intron variant | T/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.200 | 7 | 87553822 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 17 | 50683692 | missense variant | G/A | snv | 3.7E-02 | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 13 | 95021537 | 3 prime UTR variant | A/C | snv | 0.41 | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.240 | 4 | 88109768 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.200 | 3 | 38137763 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 16 | 67657673 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 16 | 67657798 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 17 | 41909521 | missense variant | T/C;G | snv | 4.0E-06; 0.10 | 0.11 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.120 | 17 | 41869011 | intron variant | G/A;C;T | snv | 4.2E-06; 0.78 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |