| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
0.840 | 0.500 | 1 | 2011 | 2019 | |||||||
|
1.000 | 0.040 | 4 | 15724143 | intron variant | T/C | snv | 0.13 |
|
0.730 | 0.500 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 15727911 | intron variant | G/A | snv | 8.1E-02 |
|
0.710 | 0.500 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 21 | 15542586 | intron variant | G/A | snv | 0.48 |
|
0.810 | 0.500 | 1 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 161275076 | regulatory region variant | C/T | snv | 0.28 |
|
0.710 | 0.500 | 1 | 2012 | 2015 | ||||||||
|
0.882 | 0.080 | 4 | 76277833 | intron variant | C/T | snv | 0.38 |
|
0.880 | 0.667 | 2 | 2009 | 2017 | ||||||||
|
0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 |
|
0.730 | 0.750 | 1 | 2010 | 2012 | |||||||
|
0.882 | 0.120 | 17 | 45999299 | missense variant | A/G | snv | 0.14 | 0.15 |
|
0.730 | 0.750 | 1 | 2010 | 2017 | |||||||
|
0.807 | 0.240 | 6 | 32441753 | intron variant | G/A | snv | 0.56 |
|
0.900 | 0.818 | 2 | 2010 | 2015 | ||||||||
|
0.925 | 0.080 | 4 | 15735478 | intron variant | C/A;G | snv | 0.43 |
|
0.880 | 0.846 | 3 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 |
|
0.850 | 0.857 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.040 | 4 | 858525 | intron variant | C/T | snv | 8.1E-02 |
|
0.870 | 0.889 | 2 | 2009 | 2015 | ||||||||
|
0.882 | 0.080 | 4 | 89725735 | 3 prime UTR variant | G/A | snv | 0.54 |
|
0.780 | 0.900 | 2 | 2007 | 2015 | ||||||||
|
0.882 | 0.080 | 18 | 43093415 | intron variant | A/G | snv | 0.33 |
|
0.890 | 0.909 | 1 | 2012 | 2020 | ||||||||
|
0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 |
|
0.900 | 0.925 | 1 | 2006 | 2019 | |||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.900 | 0.996 | 2 | 2005 | 2020 | |||||||
|
0.925 | 0.080 | 4 | 89720189 | intron variant | T/A;C | snv |
|
0.850 | 1.000 | 7 | 2010 | 2016 | |||||||||
|
0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv |
|
0.860 | 1.000 | 6 | 2009 | 2018 | |||||||||
|
1.000 | 0.040 | 17 | 45651010 | non coding transcript exon variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 5 | 2009 | 2014 | ||||||||
|
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 | |||||||
|
0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv |
|
0.900 | 1.000 | 4 | 2009 | 2020 | |||||||||
|
1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 |
|
0.800 | 1.000 | 4 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 45913906 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 4 | 2009 | 2014 | ||||||||
|
0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 |
|
0.800 | 1.000 | 4 | 2009 | 2012 |