| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.820 | 1.000 | 1 | 2009 | 2020 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.820 | 1.000 | 1 | 2010 | 2017 | |||||||||
|
0.925 | 0.040 | 21 | 15444732 | intron variant | A/G | snv | 0.44 |
|
0.810 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32111790 | non coding transcript exon variant | T/C;G | snv |
|
0.810 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 7 | 107812658 | downstream gene variant | G/A;T | snv |
|
0.810 | 1.000 | 1 | 2009 | 2018 | |||||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2012 | |||||||||
|
1.000 | 0.040 | 7 | 107854989 | regulatory region variant | G/A | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
0.925 | 0.040 | 3 | 49664550 | synonymous variant | G/A | snv | 0.26 | 0.27 |
|
0.810 | 1.000 | 1 | 2009 | 2010 | |||||||
|
1.000 | 0.040 | 2 | 198016944 | intron variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 9 | 5213687 | intergenic variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 19 | 46620526 | 3 prime UTR variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 10 | 35265126 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 1 | 19813543 | upstream gene variant | G/A;T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 16 | 85976134 | intron variant | T/C | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
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 | ||||||||
|
0.807 | 0.160 | 20 | 63696229 | 3 prime UTR variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 2 | 102047167 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 1 | 198687278 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 10752203 | intron variant | C/T | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |