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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.060 | 0.667 | 6 | 2002 | 2020 | ||||
|
14 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 0.040 | 1.000 | 4 | 2008 | 2020 | ||||
|
2 | 0.925 | 0.080 | 11 | 101105243 | intron variant | C/G | snv | 0.47 | 0.020 | 1.000 | 2 | 2013 | 2020 | ||||
|
2 | 0.925 | 0.080 | 11 | 101051471 | synonymous variant | G/A | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 11 | 101039579 | intron variant | A/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 11 | 101127937 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 11 | 101128554 | missense variant | C/T | snv | 1.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.080 | 11 | 101128058 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 11 | 101128040 | missense variant | C/G | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.080 | 11 | 101128556 | missense variant | A/G | snv | 1.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 11 | 101039260 | synonymous variant | T/C | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 11 | 101129770 | 5 prime UTR variant | A/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.160 | 11 | 101128367 | missense variant | G/A;C | snv | 6.1E-05; 4.3E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 11 | 101129045 | missense variant | G/A;C | snv | 3.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.080 | 11 | 101128246 | synonymous variant | G/A | snv | 2.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.080 | 11 | 101128998 | missense variant | A/G | snv | 4.8E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 11 | 101127471 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.925 | 0.080 | 11 | 101128241 | missense variant | G/C;T | snv | 4.7E-06; 4.7E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 |