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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
13 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
7 | 0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 1996 | 1996 | ||||
|
4 | 0.882 | 0.080 | 22 | 40635351 | intron variant | A/- | delins | 0.82 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.080 | 11 | 2800385 | intron variant | A/C | snv | 0.67 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.120 | 9 | 22116072 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
12 | 0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
17 | 0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 6 | 159897771 | intron variant | A/C;G | snv | 0.99 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
14 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
2 | 2 | 135856685 | intron variant | G/A | snv | 0.54 | 0.50 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
22 | 0.683 | 0.480 | 9 | 22003224 | 3 prime UTR variant | C/T | snv | 0.32 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
13 | 0.763 | 0.280 | 11 | 49156734 | missense variant | G/A | snv | 4.0E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
10 | 0.790 | 0.280 | 8 | 27500988 | missense variant | A/G | snv | 8.7E-02 | 0.13 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.080 | 11 | 18264227 | upstream gene variant | A/T | snv | 0.67 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.120 | 11 | 27635363 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.010 | < 0.001 | 1 | 1994 | 1994 | |||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 1996 | 1996 | |||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 |