| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 7 | 152684065 | intergenic variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.763 | 0.280 | 19 | 45364045 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.807 | 0.240 | 5 | 87395069 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.763 | 0.200 | 17 | 43094776 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv |
|
0.020 | 1.000 | 2 | 2005 | 2008 | |||||||||
|
0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | |||||||
|
0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | ||||||||
|
0.851 | 0.160 | 1 | 24951491 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 1 | 111766501 | missense variant | C/A;T | snv | 0.12; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.776 | 0.240 | 11 | 94417624 | 3 prime UTR variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.240 | 1 | 24925432 | intron variant | A/T | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 1.000 | 2 | 2004 | 2009 | |||||||
|
0.851 | 0.160 | 9 | 99105256 | inframe insertion | GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG | delins |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.732 | 0.280 | 19 | 45370684 | 5 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.120 | 2 | 221196620 | intergenic variant | C/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.200 | 17 | 80715103 | intron variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |