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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | X | 30308656 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 30308445 | stop gained | C/A;G | snv | 1.3E-05 | 9.5E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | X | 30308463 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 30308812 | frameshift variant | TT/-;T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 30308848 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 30308836 | stop gained | G/A;C | snv | 6.1E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.240 | 6 | 31507709 | intron variant | C/T | snv | 0.77 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.742 | 0.360 | 14 | 24510132 | upstream gene variant | C/T | snv | 0.41 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.240 | 10 | 94265734 | intron variant | A/C | snv | 9.7E-02 | 8.4E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
17 | 0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 |