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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 21286370 | missense variant | A/G;T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 40301333 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 14 | 50283990 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | 1 | 110603902 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.120 | 12 | 51790425 | stop gained | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
3 | 114339384 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.851 | 0.280 | 3 | 177033050 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.200 | X | 71169399 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 2 | 96739883 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 12 | 51806345 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 1 | 22086451 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.200 | 22 | 30941503 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
0.790 | 0.400 | X | 71127367 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.200 | 8 | 132180246 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 13 | 101083752 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.160 | 22 | 19176585 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.040 | 2 | 24793223 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 11 | 3825024 | missense variant | G/A;C;T | snv | 8.0E-06; 3.6E-05; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 12 | 88153313 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
6 | 31165136 | missense variant | C/T | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.160 | 2 | 86166521 | missense variant | A/G | snv | 8.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.200 | X | 119837939 | missense variant | G/A;T | snv | 8.2E-05; 5.5E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
6 | 70252139 | missense variant | C/T | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |