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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 1 | 17336144 | intron variant | T/C | snv | 0.56 | 0.54 |
|
0.770 | 1.000 | 7 | 2008 | 2017 | |||||||
|
0.925 | 0.120 | 21 | 44289270 | non coding transcript exon variant | G/A | snv | 0.19 |
|
0.860 | 0.833 | 6 | 2011 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 198731313 | intron variant | G/A | snv | 0.21 |
|
0.740 | 1.000 | 5 | 2010 | 2016 | ||||||||
|
1.000 | 0.120 | 16 | 85985481 | upstream gene variant | T/A | snv | 0.24 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 167127354 | intron variant | C/T | snv | 0.61 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
1.000 | 0.120 | 5 | 103273223 | intron variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 60897715 | intron variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 186656533 | intron variant | C/A;G | snv | 0.28 |
|
0.040 | 0.750 | 4 | 2007 | 2014 | ||||||||
|
1.000 | 0.120 | 15 | 69699078 | non coding transcript exon variant | G/A | snv | 0.35 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 32366178 | missense variant | T/C | snv | 0.42 | 0.33 |
|
0.700 | 1.000 | 4 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32368809 | missense variant | A/G | snv | 0.41 | 0.33 |
|
0.700 | 1.000 | 4 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32339605 | missense variant | G/A | snv | 0.40 | 0.33 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 22 | 21624807 | downstream gene variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 60908994 | intron variant | G/T | snv | 0.25 |
|
0.810 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
1.000 | 0.120 | 6 | 137644281 | intergenic variant | G/A | snv | 0.24 |
|
0.030 | 0.667 | 3 | 2009 | 2016 | ||||||||
|
1.000 | 0.120 | 7 | 55171181 | synonymous variant | T/A;G | snv |
|
0.030 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
0.925 | 0.120 | 1 | 17336167 | missense variant | T/C;G | snv | 0.63; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
1.000 | 0.120 | 9 | 120878222 | intron variant | T/C | snv | 0.68 |
|
0.710 | 1.000 | 3 | 2007 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 32070923 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 44265183 | missense variant | A/G | snv | 4.9E-02 | 5.1E-02 |
|
0.810 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.925 | 0.120 | 6 | 32062507 | intron variant | G/A | snv | 0.33 | 0.25 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 1 | 17348042 | synonymous variant | C/A | snv | 0.39 | 0.37 |
|
0.810 | 1.000 | 3 | 2011 | 2019 | |||||||
|
1.000 | 0.120 | 6 | 31616154 | non coding transcript exon variant | C/T | snv | 0.15 | 0.14 |
|
0.710 | 1.000 | 3 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 33707865 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 1 | 17346235 | intron variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 3 | 2014 | 2019 |