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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.240 | 2 | 189565370 | missense variant | C/A | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.240 | 2 | 218390027 | missense variant | C/T | snv | 2.9E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
9 | 0.827 | 0.240 | 6 | 31273255 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.200 | 3 | 48467567 | synonymous variant | G/A | snv | 9.4E-03 | 4.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.200 | 12 | 78807293 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.160 | 12 | 6800276 | intron variant | T/C | snv | 0.59 | 0.61 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.120 | 10 | 21003994 | intron variant | C/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.120 | 6 | 25784253 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.925 | 0.120 | 16 | 28499524 | 3 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 16 | 57358821 | missense variant | A/C;T | snv | 0.92 | 0.94 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.120 | 12 | 55958494 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.120 | 4 | 76023632 | intron variant | C/T | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 12 | 68253559 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.851 | 0.080 | 2 | 233764663 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 20 | 3977969 | intron variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 206842612 | missense variant | T/C;G | snv | 0.71; 5.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 3 | 46264639 | non coding transcript exon variant | G/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 31268906 | 3 prime UTR variant | C/- | delins | 6.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.925 | 0.040 | 2 | 233765830 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 4 | 100647799 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24064827 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 5 | 24059742 | intron variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24069684 | intron variant | C/T | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |