Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 14 | 74239626 | frameshift variant | -/G | delins | 1.3E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 17 | 32940899 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
8 | 0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 10 | 93593997 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 47417035 | stop gained | C/A | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.200 | 14 | 60509819 | missense variant | C/A;G | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.160 | 4 | 182754413 | missense variant | C/A;G | snv | 4.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.851 | 0.120 | 3 | 25596428 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
7 | 0.790 | 0.200 | 21 | 43172104 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.200 | 11 | 31802714 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
18 | 0.732 | 0.280 | 19 | 52212729 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.120 | 14 | 69952261 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 47416625 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 3 | 25596566 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 18 | 68711389 | missense variant | C/T | snv | 2.9E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 4 | 182799938 | missense variant | C/T | snv | 9.2E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | X | 17687870 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.120 | X | 11118574 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 14 | 74259689 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 |