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 | 19 | 44919330 | 3 prime UTR variant | A/G | snv | 3.7E-02 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||||
|
5 | 10 | 93079885 | downstream gene variant | G/A | snv | 0.42 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||||
|
5 | 15 | 58431227 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 5 | 2015 | 2019 | ||||||
|
6 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
4 | 11 | 116748357 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2008 | 2019 | |||||||
|
2 | 15 | 43953733 | intron variant | A/T | snv | 0.13 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
4 | 8 | 19961928 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 5 | 2008 | 2019 | ||||||
|
5 | 4 | 87109109 | intron variant | G/T | snv | 0.56 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
3 | 11 | 116794363 | upstream gene variant | C/T | snv | 0.17 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||||
|
6 | 10 | 63267850 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
7 | 8 | 125483576 | intron variant | C/T | snv | 0.39 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
7 | 8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
6 | 11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 4 | 2018 | 2019 | ||||||
|
4 | 19 | 19225799 | intron variant | C/T | snv | 9.4E-02 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||||
|
4 | 8 | 125470379 | intron variant | C/A;T | snv | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||||
|
9 | 8 | 125479491 | intron variant | G/T | snv | 0.42 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
6 | 8 | 125469505 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 4 | 2012 | 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 | ||||||
|
4 | 11 | 117204850 | 3 prime UTR variant | C/T | snv | 5.2E-02 | 0.700 | 1.000 | 4 | 2011 | 2019 | ||||||
|
3 | 15 | 43528519 | missense variant | C/T | snv | 2.2E-02 | 2.0E-02 | 0.700 | 1.000 | 4 | 2014 | 2019 | |||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 4 | 2010 | 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 | ||||||
|
7 | 4 | 3442204 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 |