| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 |
|
0.810 | 1.000 | 8 | 2010 | 2019 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 0.964 | 4 | 2008 | 2019 | ||||||||
|
0.827 | 0.080 | 11 | 79366149 | intron variant | A/G | snv | 0.15 |
|
0.820 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.851 | 0.040 | 1 | 78772330 | intergenic variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 3 | 2013 | 2014 | ||||||||
|
0.790 | 0.120 | 6 | 152469438 | intron variant | G/T | snv | 0.46 |
|
0.820 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 66783531 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 15 | 38703290 | intron variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 3 | 52780240 | non coding transcript exon variant | T/A | snv | 0.44; 3.1E-03; 1.5E-04; 1.0E-05 | 0.42 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv |
|
0.810 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
1.000 | 0.040 | 12 | 2310730 | intron variant | A/T | snv | 0.82 |
|
0.810 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 81500549 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 5 | 138358306 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 13 | 42079301 | intron variant | C/A | snv | 0.85 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 14 | 57652478 | intron variant | C/T | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 2 | 121320830 | intergenic variant | A/G | snv | 0.16 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 20934123 | intergenic variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 7 | 1881190 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.040 | 19 | 19948684 | intron variant | G/A | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 3 | 52786995 | missense variant | A/G | snv | 0.40 | 0.42 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 6 | 166581772 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 12 | 49073211 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |