| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.800 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.770 | 1.000 | 0 | 2011 | 2019 | |||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.730 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.750 | 0.800 | 1 | 2014 | 2018 | |||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.800 | 0.960 | 6 | 2008 | 2018 | |||||||
|
0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv |
|
0.710 | 0.500 | 1 | 2011 | 2018 | |||||||||
|
0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 |
|
0.800 | 0.857 | 7 | 2008 | 2017 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.701 | 0.280 | 13 | 32295727 | 3 prime UTR variant | G/A | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 |
|
0.760 | 1.000 | 3 | 2008 | 2017 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 |
|
0.740 | 1.000 | 2 | 2009 | 2020 | ||||||||
|
0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.440 | 6 | 31753256 | intron variant | G/A | snv | 6.4E-02 | 7.9E-02 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | |||||||
|
0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 |
|
0.750 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 |
|
0.720 | 1.000 | 1 | 2009 | 2010 | ||||||||
|
0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 |
|
0.720 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.776 | 0.120 | 22 | 30202563 | intron variant | C/G | snv | 0.25 |
|
0.720 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.776 | 0.440 | 6 | 31973120 | non coding transcript exon variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.120 | 13 | 23719720 | regulatory region variant | A/G | snv | 0.50 |
|
0.720 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.776 | 0.320 | 6 | 30814225 | non coding transcript exon variant | C/T | snv | 7.1E-02 | 8.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv |
|
0.730 | 1.000 | 2 | 2009 | 2012 |