| 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 | 0.160 | 6 | 79925034 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | X | 123900534 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.120 | 20 | 38373994 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.080 | 14 | 24574706 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.080 | 7 | 101130457 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 19 | 18075817 | missense variant | C/G;T | snv | 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 1 | 19970618 | upstream gene variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 1 | 223142735 | intron variant | G/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 11 | 126292326 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 11 | 126293169 | 3 prime UTR variant | A/G | snv | 0.12 | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.882 | 0.080 | 12 | 66250331 | 3 prime UTR variant | T/C | snv | 9.0E-02 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 1 | 247421289 | intron variant | A/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 1 | 247415139 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.160 | 3 | 52218953 | non coding transcript exon variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 11 | 1307121 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
0.020 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.790 | 0.240 | 8 | 73989727 | upstream gene variant | C/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |