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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 11 | 74457316 | missense variant | C/T | snv | 3.0E-03 | 3.8E-03 | 0.020 | 1.000 | 2 | 2003 | 2004 | |||
|
7 | 0.790 | 0.240 | 17 | 70175238 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
18 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 17 | 63951560 | missense variant | C/G | snv | 9.9E-03 | 9.8E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.320 | 17 | 70263305 | intergenic variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
9 | 0.790 | 0.200 | 17 | 63945614 | missense variant | C/A;T | snv | 1.6E-05; 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.742 | 0.240 | 17 | 63941508 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |