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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 8 | 125469505 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
1 | 11 | 116784884 | missense variant | G/A;C | snv | 6.6E-02; 8.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||||
|
5 | 11 | 116786845 | intron variant | C/T | snv | 0.73 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
3 | 1.000 | 0.080 | 5 | 56565959 | intron variant | C/T | snv | 0.20 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
7 | 0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2009 | 2019 | |||||||
|
6 | 1 | 62465961 | intron variant | C/A | snv | 0.57 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
6 | 1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.800 | 1.000 | 3 | 2010 | 2019 | ||||
|
8 | 1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
7 | 0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2011 | 2018 | |||||
|
2 | 11 | 116936627 | intron variant | G/A | snv | 1.1E-02 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||||
|
5 | 1.000 | 0.040 | 8 | 19967156 | 3 prime UTR variant | C/T | snv | 0.36 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||
|
5 | 11 | 116736721 | regulatory region variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2008 | 2019 | |||||||
|
8 | 0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 | 0.800 | 1.000 | 3 | 2008 | 2012 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2010 | 2019 | |||||
|
5 | 1.000 | 0.040 | 8 | 19995007 | regulatory region variant | C/T | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
10 | 8 | 125465736 | upstream gene variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2011 | 2019 | |||||||
|
1 | 11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 | 0.800 | 1.000 | 3 | 2008 | 2019 | |||||
|
5 | 1.000 | 0.040 | 11 | 116776891 | 3 prime UTR variant | C/T | snv | 0.92 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
5 | 19 | 19635342 | intron variant | G/C;T | snv | 0.800 | 1.000 | 3 | 2009 | 2019 |