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 | 1.000 | 7 | 47965365 | synonymous variant | C/T | snv | 0.49 | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 17 | 7675084 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 16 | 82164193 | missense variant | A/T | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 7 | 41964929 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 10 | 77819464 | splice region variant | G/A | snv | 0.29 | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 1 | 7809893 | missense variant | C/G | snv | 5.6E-03 | 5.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 13 | 110201467 | missense variant | G/A | snv | 5.2E-05 | 1.7E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 3 | 184352800 | missense variant | C/G | snv | 1.5E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 7 | 50529166 | intron variant | C/T | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 7 | 50561043 | 5 prime UTR variant | TCTC/-;TC | delins | 0.23 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 13 | 110187254 | missense variant | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 7 | 36411062 | missense variant | C/T | snv | 1.7E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 6 | 122399830 | missense variant | G/A;C | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 1.000 | 7 | 35248696 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1.000 | 16 | 46674629 | missense variant | G/A | snv | 7.7E-05 | 9.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 13 | 102401633 | missense variant | A/G;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 17 | 3937577 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 19 | 41975776 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 1 | 11022556 | missense variant | A/G | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 3 | 32146681 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
7 | 0.807 | 0.040 | 10 | 13109270 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2003 | 2013 | |||||
|
5 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.040 | 12 | 104321282 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.040 | 17 | 56594609 | stop gained | T/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
4 | 0.851 | 0.040 | 21 | 32681590 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |