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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 11 | 47339376 | frameshift variant | G/- | delins | 0.700 | 1.000 | 9 | 1998 | 2017 | |||||
|
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 | |||
|
9 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 0.710 | 0.833 | 6 | 2003 | 2013 | ||||
|
1 | 1.000 | 0.040 | 14 | 23428992 | missense variant | A/C;G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 6 | 2011 | 2017 | |||
|
1 | 1.000 | 0.040 | 11 | 47332151 | frameshift variant | G/- | delins | 0.700 | 1.000 | 5 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.040 | 14 | 23426021 | missense variant | A/T | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.040 | 19 | 55151856 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2010 | ||||
|
1 | 1.000 | 0.040 | 14 | 23428601 | missense variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2007 | 2017 | |||||
|
1 | 1.000 | 0.040 | 14 | 23431474 | missense variant | A/C | snv | 0.700 | 1.000 | 5 | 2009 | 2017 | |||||
|
8 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 0.040 | 1.000 | 4 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 14 | 23426057 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.040 | 12 | 110911093 | missense variant | C/T | snv | 0.710 | 1.000 | 4 | 2008 | 2018 | |||||
|
4 | 0.882 | 0.040 | 11 | 19188245 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2004 | 2018 | |||||
|
1 | 1.000 | 0.040 | 11 | 47332576 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 2013 | 2017 | |||||
|
1 | 1.000 | 0.040 | 14 | 23424794 | inframe deletion | TCT/- | delins | 0.700 | 1.000 | 3 | 2003 | 2017 | |||||
|
4 | 0.882 | 0.040 | 15 | 63060930 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2002 | 2005 | |||||
|
1 | 1.000 | 0.040 | 15 | 84839087 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2012 | 2016 | |||||
|
3 | 0.882 | 0.040 | 19 | 55157097 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2012 | 2016 | |||||
|
1 | 1.000 | 0.040 | 14 | 23426003 | missense variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.040 | 14 | 23432503 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2011 | 2016 | |||||
|
1 | 1.000 | 0.040 | 14 | 23415174 | missense variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.040 | 15 | 63060924 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2015 | 2017 | |||
|
1 | 1.000 | 0.040 | 1 | 201365281 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2011 | ||||
|
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 | 14 | 23420225 | missense variant | C/G;T | snv | 4.1E-06 | 0.700 | 1.000 | 3 | 2008 | 2011 |