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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.720 | 0.667 | 1 | 2010 | 2017 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
0.800 | 0.846 | 1 | 2002 | 2018 | ||||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.840 | 0.889 | 5 | 2008 | 2017 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 0.923 | 1 | 2004 | 2017 | ||||||||
|
0.827 | 0.120 | 1 | 19845367 | TF binding site variant | G/A | snv | 0.52 |
|
0.810 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.827 | 0.120 | 13 | 26957130 | regulatory region variant | T/C | snv | 0.16 |
|
0.820 | 1.000 | 6 | 2009 | 2017 | ||||||||
|
0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 |
|
0.820 | 1.000 | 6 | 2011 | 2017 | ||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.820 | 1.000 | 5 | 2008 | 2017 | |||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.850 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 135107916 | intron variant | G/A | snv | 0.32 |
|
0.800 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.827 | 0.120 | 1 | 200132792 | intron variant | A/G | snv | 0.84 |
|
0.800 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 4 | 2010 | 2017 | ||||||||
|
0.827 | 0.120 | 1 | 19816373 | intron variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 4 | 2009 | 2016 | ||||||||
|
0.925 | 0.120 | 20 | 44436388 | non coding transcript exon variant | A/C | snv | 0.62 |
|
0.810 | 1.000 | 4 | 2009 | 2017 | ||||||||
|
0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 |
|
0.800 | 1.000 | 4 | 2009 | 2017 | ||||||||
|
0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.827 | 0.120 | 13 | 40439840 | intron variant | T/C | snv | 0.77 |
|
0.800 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.830 | 1.000 | 3 | 2010 | 2016 | |||||||||
|
0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.800 | 1.000 | 3 | 2011 | 2017 | |||||||
|
1.000 | 0.040 | 16 | 30471173 | upstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 1.000 | 3 | 2007 | 2020 | |||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
1.000 | 0.040 | 16 | 85980635 | intron variant | T/C | snv | 0.15 |
|
0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 |
|
0.810 | 1.000 | 3 | 2009 | 2017 |