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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 11 | 47337420 | missense variant | C/T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 2008 | 2017 | |||
|
1 | 1.000 | 0.040 | 11 | 47332151 | frameshift variant | G/- | delins | 0.700 | 1.000 | 5 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 47332576 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 2013 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 47350009 | splice region variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 47332245 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 47341990 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 47343051 | missense variant | C/T | snv | 1.4E-04 | 1.6E-04 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
1 | 1.000 | 0.040 | 11 | 47343099 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2002 | 2008 | |||||
|
1 | 1.000 | 0.040 | 11 | 47339702 | frameshift variant | AGGG/CC | delins | 0.700 | 1.000 | 2 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 47338646 | stop gained | C/A | snv | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 47349815 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 1.000 | 0.040 | 11 | 47348423 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2001 | 2009 | |||||
|
1 | 1.000 | 0.040 | 11 | 47342153 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
1 | 1.000 | 0.040 | 11 | 47351294 | stop gained | G/A;C;T | snv | 5.3E-05 | 0.700 | 1.000 | 2 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 47332931 | missense variant | C/A;T | snv | 4.1E-06; 2.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 47333966 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 47349898 | missense variant | C/G;T | snv | 8.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 47349782 | missense variant | C/A;T | snv | 4.2E-06; 3.7E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 47341992 | missense variant | G/A | snv | 3.0E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 11 | 47337467 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 47343062 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.040 | 11 | 47342088 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.040 | 11 | 47339677 | frameshift variant | -/A | delins | 4.1E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 47336004 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 47333678 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2005 | 2005 |