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 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 0.750 | 4 | 2008 | 2019 | ||||
|
2 | 1.000 | 0.040 | 5 | 135107916 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
3 | 0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.800 | 1.000 | 3 | 2011 | 2017 | |||
|
2 | 1.000 | 0.040 | 16 | 30471173 | upstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
4 | 1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 3 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.040 | 16 | 85980635 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 15 | 41271752 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 7 | 107839870 | intergenic variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.040 | 11 | 96290263 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
4 | 1.000 | 0.040 | 7 | 2750246 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.040 | 2 | 102046427 | intron variant | T/G | snv | 0.62 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
3 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 2569899 | downstream gene variant | C/T | snv | 0.51 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 593968 | intergenic variant | T/C | snv | 0.29 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
2 | 0.925 | 0.040 | 21 | 15444732 | intron variant | A/G | snv | 0.44 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 0.925 | 0.040 | 10 | 77811115 | frameshift variant | G/-;GG | delins | 0.020 | 0.500 | 2 | 2007 | 2016 | |||||
|
3 | 0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 2 | 198658398 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||
|
3 | 0.925 | 0.040 | 19 | 33240645 | regulatory region variant | G/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 7 | 107812658 | downstream gene variant | G/A;T | snv | 0.810 | 1.000 | 2 | 2009 | 2018 | |||||
|
3 | 0.925 | 0.040 | 10 | 77811115 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06; 5.7E-02 | 0.020 | 0.500 | 2 | 2007 | 2016 | ||||
|
3 | 0.925 | 0.040 | 22 | 39263768 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 21 | 15445619 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 2 | 2015 | 2017 |