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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 3 | 36993656 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 37025932 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 3 | 37040295 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37025834 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37008855 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 3 | 37008905 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 37020312 | stop gained | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 3 | 37017521 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.040 | 0.750 | 4 | 2008 | 2017 | ||||
|
6 | 0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 3 | 36993663 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 3 | 37048526 | frameshift variant | -/ATTG | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 3 | 37028855 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |