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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 6 | 32827255 | 3 prime UTR variant | G/A | snv | 6.1E-02 |
|
0.800 | 1.000 | 4 | 2007 | 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 | ||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.820 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.882 | 0.240 | 6 | 32437082 | upstream gene variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 4 | 2007 | 2011 | ||||||||
|
0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 4 | 2007 | 2011 | ||||||||
|
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 | ||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.820 | 1.000 | 4 | 2007 | 2018 | |||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.800 | 1.000 | 4 | 2007 | 2019 | ||||||||
|
0.790 | 0.320 | 6 | 32315077 | intron variant | A/G | snv | 0.14 |
|
0.810 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
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 | |||||||
|
0.925 | 0.160 | 2 | 65368452 | intron variant | G/A;T | snv | 0.54 |
|
0.800 | 1.000 | 4 | 2010 | 2014 | ||||||||
|
0.827 | 0.440 | 10 | 6348488 | intron variant | G/A | snv | 0.79 |
|
0.800 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32339605 | missense variant | G/A | snv | 0.40 | 0.33 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.925 | 0.160 | 6 | 31937353 | synonymous variant | G/A | snv | 9.7E-02 | 0.12 |
|
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 | ||||||||
|
0.925 | 0.160 | 3 | 58571114 | intron variant | T/C | snv | 0.15 |
|
0.800 | 1.000 | 3 | 2010 | 2012 | ||||||||
|
0.925 | 0.200 | 6 | 137684378 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 3 | 2014 | 2019 | |||||||||
|
0.807 | 0.320 | 6 | 32698749 | intergenic variant | C/T | snv | 6.4E-02 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 3 | 2007 | 2011 |