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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.851 | 0.200 | 1 | 156137203 | missense variant | C/T | snv | 1.4E-05 | 1.4E-05 | 0.820 | 1.000 | 2 | 2003 | 2013 | |||
|
4 | 0.827 | 0.200 | 1 | 156130693 | missense variant | G/A | snv | 0.820 | 1.000 | 2 | 2003 | 2017 | |||||
|
4 | 0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 | 0.790 | 0.917 | 9 | 2003 | 2018 | ||||
|
4 | 0.851 | 0.240 | 1 | 156130688 | missense variant | C/G;T | snv | 0.730 | 1.000 | 3 | 2003 | 2015 | |||||
|
4 | 0.851 | 0.120 | 1 | 156138657 | missense variant | C/G | snv | 0.720 | 1.000 | 2 | 2004 | 2016 | |||||
|
6 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 0.710 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 1 | 156137664 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2006 | 2014 | |||||
|
1 | 0.925 | 0.160 | 1 | 156137671 | missense variant | G/C | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.827 | 0.280 | 1 | 156137207 | missense variant | C/A;G;T | snv | 9.3E-06 | 0.710 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 1 | 156138610 | splice region variant | G/A | snv | 0.710 | 1.000 | 1 | 2007 | 2012 | |||||
|
3 | 0.925 | 0.120 | 1 | 156139085 | synonymous variant | C/T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 2011 | 2016 | ||||
|
2 | 0.882 | 0.160 | 1 | 156137213 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2004 | 2008 | |||||
|
3 | 0.882 | 0.200 | 1 | 156135274 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.776 | 0.200 | 1 | 156137204 | missense variant | G/A;C | snv | 4.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.160 | 1 | 156137197 | frameshift variant | -/CTGC | delins | 0.010 | 1.000 | 1 | 2006 | 2006 |