| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.050 | 1.000 | 5 | 2005 | 2017 | ||||||||
|
0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.160 | 11 | 32392031 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | 9 | 124493083 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.200 | 9 | 124500523 | missense variant | C/A;G | snv | 4.3E-06; 0.10 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 9 | 124500585 | synonymous variant | C/A;T | snv | 2.2E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 19 | 38494564 | missense variant | C/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.200 | 11 | 32392020 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.120 | 1 | 212619442 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.120 | 2 | 31580686 | missense variant | G/A;C | snv | 8.7E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 12 | 82354560 | missense variant | T/C;G | snv | 2.6E-05; 2.8E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 17 | 36598163 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 8 | 71165720 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.160 | 9 | 96235528 | missense variant | C/A;G;T | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 13 | 36865689 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 15 | 32731784 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.160 | 7 | 17296411 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | X | 50380968 | intron variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.160 | 11 | 32396397 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06; 9.6E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.240 | 15 | 51222402 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 10 | 121485414 | missense variant | C/T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 10 | 121520026 | missense variant | C/T | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |