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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.200 | 22 | 19962641 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
8 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.882 | 0.200 | 22 | 19962797 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
9 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.120 | 16 | 3745362 | splice region variant | G/A | snv | 7.7E-02 | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 11 | 113396099 | missense variant | G/A | snv | 0.25 | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 2 | 227531108 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 8 | 53229594 | synonymous variant | G/A | snv | 4.3E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.080 | 8 | 32579499 | intron variant | C/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 108141755 | intergenic variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.925 | 0.120 | 8 | 53229597 | synonymous variant | T/C;G | snv | 0.17; 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 8 | 53250920 | missense variant | C/A;T | snv | 8.3E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 6 | 88152840 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 6 | 88154344 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 8 | 53229264 | synonymous variant | C/T | snv | 0.17 | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 1.000 | 4 | 2004 | 2013 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1 | 204858913 | intron variant | C/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 2 | 105840835 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 4 | 148126966 | intron variant | G/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 5 | 76969157 | 3 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 |