Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 |
|
0.900 | 0.925 | 1 | 2006 | 2019 | |||||||
|
0.882 | 0.080 | 18 | 43093415 | intron variant | A/G | snv | 0.33 |
|
0.890 | 0.909 | 1 | 2012 | 2020 | ||||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
0.840 | 0.500 | 1 | 2011 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 134782397 | intron variant | C/T | snv | 0.62 |
|
0.830 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 864544 | intron variant | C/G;T | snv |
|
0.820 | 1.000 | 1 | 2010 | 2014 | |||||||||
|
0.882 | 0.160 | 6 | 32420032 | intergenic variant | T/C | snv | 0.17 |
|
0.820 | 1.000 | 1 | 2012 | 2020 | ||||||||
|
1.000 | 0.040 | 1 | 101414449 | intergenic variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
1.000 | 0.040 | 21 | 15542586 | intron variant | G/A | snv | 0.48 |
|
0.810 | 0.500 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 106556209 | intron variant | G/A | snv | 0.46 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 183042285 | intron variant | T/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 61708933 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 12 | 39959194 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 16 | 31083850 | 3 prime UTR variant | C/T | snv | 0.42 | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 1 | 18813023 | intergenic variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 155135691 | splice region variant | G/A;C | snv | 1.1E-02; 3.4E-05 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 8 | 11841238 | downstream gene variant | A/G | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 40971838 | 3 prime UTR variant | G/A | snv | 6.8E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 9 | 17731923 | intron variant | T/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 154882579 | intergenic variant | G/A | snv | 5.0E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 10 | 102831636 | 3 prime UTR variant | G/T | snv | 0.14 | 0.10 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 10 | 69820364 | intron variant | T/C | snv | 6.0E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 17 | 46110126 | intron variant | A/G | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 17 | 46788237 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 17 | 46779275 | intron variant | G/C | snv | 0.84 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 154405854 | 3 prime UTR variant | G/A | snv | 6.3E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |