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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 15 | 92443898 | intron variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 14138061 | downstream gene variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.280 | 7 | 98187015 | intron variant | C/T | snv | 0.41 | 0.37 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
3 | 189638432 | intron variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.851 | 0.120 | 15 | 92440492 | intron variant | A/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 8 | 9751081 | intron variant | C/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 14141866 | downstream gene variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
3 | 189527804 | intergenic variant | A/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 9552985 | upstream gene variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |