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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.830 | 1.000 | 6 | 2007 | 2019 | ||||||||
|
0.925 | 0.040 | 3 | 49664550 | synonymous variant | G/A | snv | 0.26 | 0.27 |
|
0.810 | 1.000 | 3 | 2007 | 2010 | |||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 |
|
0.810 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 3433084 | intron variant | T/G | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
1.000 | 0.040 | 21 | 15440233 | intron variant | C/A | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 233275771 | non coding transcript exon variant | G/A | snv | 0.45 | 0.42 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2007 | 2014 | |||||||||
|
1.000 | 0.040 | 5 | 73255307 | intron variant | A/G | snv | 0.42 |
|
0.800 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 |
|
0.840 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 40386453 | regulatory region variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 56143024 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 2 | 60997124 | intron variant | C/T | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2007 | 2010 | |||||||||
|
1.000 | 0.040 | 6 | 29266733 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 7 | 26852821 | intron variant | G/A | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 172893799 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 2 | 43579779 | intron variant | C/T | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 40393503 | intergenic variant | A/C;G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 10 | 131373856 | intergenic variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 |
|
0.810 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 191590226 | intergenic variant | A/T | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 10 | 119345799 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2007 | 2007 |