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 | 0.080 | 7 | 44145637 | stop gained | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2006 | 2011 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2006 | 2011 | ||||||||
|
0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2006 | 2011 | |||||||||
|
0.790 | 0.360 | 10 | 67906841 | synonymous variant | T/C | snv | 0.11 | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 1 | 239907303 | intron variant | T/C | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 7 | 44146467 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 11 | 17474926 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 12 | 2000 | 2012 | ||||||||
|
0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2012 | ||||||||
|
0.882 | 0.080 | 7 | 44147726 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2012 | ||||||||
|
0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 12 | 1991 | 2013 | |||||||||
|
0.807 | 0.280 | 1 | 156136009 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 5 | 1990 | 2013 | ||||||||
|
0.925 | 0.080 | 12 | 120993686 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 4 | 2000 | 2013 | |||||||||
|
0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 4 | 1977 | 2013 | |||||||||
|
0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv |
|
0.700 | 1.000 | 4 | 2000 | 2013 | |||||||||
|
0.925 | 0.080 | 12 | 120996261 | splice acceptor variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
0.851 | 0.200 | 10 | 87864461 | 5 prime UTR variant | C/G | snv | 3.8E-03 | 1.4E-03 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 20 | 44406208 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 7 | 44145636 | stop gained | C/A;G | snv | 4.3E-06 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 7 | 44153334 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 |