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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.100 | 0.500 | 18 | 2005 | 2019 | |||
|
5 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2005 | 2009 | ||||
|
4 | 0.851 | 0.120 | 3 | 9751845 | missense variant | G/A;T | snv | 3.4E-04; 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2016 | ||||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.020 | 1.000 | 2 | 2010 | 2013 | |||
|
5 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 0.020 | 0.500 | 2 | 2005 | 2009 | |||||
|
5 | 0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 3 | 9756791 | missense variant | G/A;T | snv | 3.9E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 9754859 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.080 | 3 | 9756823 | missense variant | G/A | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |