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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 17 | 45641777 | non coding transcript exon variant | A/G | snv | 0.18 | 0.29 |
|
0.810 | 1.000 | 3 | 2009 | 2015 | |||||||
|
1.000 | 0.040 | 4 | 970571 | intron variant | C/T | snv | 9.3E-02 |
|
0.810 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 156060246 | upstream gene variant | C/G;T | snv | 1.5E-02 |
|
0.810 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 4 | 15736314 | intron variant | A/G | snv | 0.24 |
|
0.810 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 4 | 945299 | intron variant | C/T | snv | 0.28 |
|
0.810 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
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 | ||||||||
|
0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 5 | 2009 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 45436075 | 3 prime UTR variant | C/T | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 4 | 2009 | 2012 | |||||||
|
1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 |
|
0.800 | 1.000 | 4 | 2011 | 2014 | ||||||||
|
0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 |
|
0.800 | 1.000 | 4 | 2009 | 2012 | |||||||
|
0.925 | 0.120 | 17 | 46751565 | synonymous variant | G/A | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 4 | 2009 | 2012 | |||||||
|
1.000 | 0.040 | 4 | 89744890 | intron variant | C/T | snv | 0.54 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 17 | 46781778 | intron variant | C/T | snv | 0.84 |
|
0.800 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 4 | 89876150 | upstream gene variant | A/G | snv | 0.16 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 134834811 | intron variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
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 |