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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.280 | 11 | 108316015 | stop gained | C/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 13 | 32380085 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.827 | 0.120 | 9 | 136495945 | 3 prime UTR variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.160 | 6 | 32223953 | 5 prime UTR variant | G/A | snv | 0.34 | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.827 | 0.120 | 19 | 15192414 | synonymous variant | G/A;T | snv | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 6 | 32220863 | missense variant | T/C | snv | 0.31 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 11 | 69564393 | TF binding site variant | C/A | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 13 | 32340327 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |