Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 11 | 17387907 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.360 | 16 | 89279567 | frameshift variant | GGCTTCGG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 32954436 | synonymous variant | C/T | snv | 0.25 | 0.23 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
12 | 0.742 | 0.360 | 14 | 24510132 | upstream gene variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 5 | 179794090 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.120 | 19 | 18086825 | 5 prime UTR variant | G/A | snv | 0.16 | 0.17 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.240 | X | 78272820 | missense variant | G/A;C;T | snv | 0.73 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 17 | 74773195 | non coding transcript exon variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 17 | 74770161 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 11 | 112160357 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.120 | 10 | 8061297 | intron variant | A/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.200 | 20 | 3670825 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 8 | 6880123 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 8 | 6879098 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 5 | 148114596 | intron variant | A/C | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 5 | 148072009 | intron variant | A/G | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 5 | 148112898 | synonymous variant | T/C | snv | 4.5E-02 | 3.5E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 5 | 148086438 | missense variant | G/A | snv | 4.6E-02 | 3.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |