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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 49902723 | missense variant | A/G | snv | 8.8E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
17 | 39724864 | missense variant | C/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||||
|
0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.020 | 1.000 | 2 | 2005 | 2010 | |||||||
|
0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.790 | 0.120 | 7 | 116700208 | missense variant | A/G | snv | 2.7E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 20 | 2006 | 2019 | ||||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.100 | 0.950 | 20 | 2006 | 2019 | |||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 20 | 2006 | 2019 | |||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 2006 | 2019 | |||||||||
|
0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv |
|
0.020 | 0.500 | 2 | 2006 | 2008 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 |