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 | 0.925 | 0.080 | 16 | 55499358 | intron variant | A/G | snv | 0.26 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.080 | 17 | 58280438 | missense variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
15 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 16 | 55484698 | intron variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
107 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
27 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
18 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 4 | 177298634 | intron variant | C/T | snv | 0.23 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
81 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
10 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
13 | 0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 5 | 33998663 | missense variant | C/A | snv | 0.13 | 0.11 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
20 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
4 | 0.925 | 0.080 | 6 | 52797630 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 8 | 16143592 | synonymous variant | G/A | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.080 | 9 | 78304854 | missense variant | C/T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 17 | 65536247 | intron variant | C/T | snv | 5.3E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
11 | 0.752 | 0.240 | 16 | 1079010 | missense variant | C/A | snv | 3.7E-02 | 3.7E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.080 | 9 | 76763591 | intron variant | G/A | snv | 0.32 | 0.010 | < 0.001 | 1 | 2018 | 2018 |