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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.800 | 0.843 | 51 | 1995 | 2019 | |||||||
|
0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 |
|
0.760 | 0.857 | 6 | 2008 | 2018 | ||||||||
|
0.925 | 0.120 | 6 | 50835337 | intron variant | A/G | snv | 0.17 |
|
0.740 | 1.000 | 4 | 2009 | 2015 | ||||||||
|
0.882 | 0.160 | 16 | 53784548 | intron variant | G/T | snv | 0.30 |
|
0.730 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 638144 | regulatory region variant | G/T | snv | 0.82 |
|
0.730 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.925 | 0.120 | 18 | 60371539 | missense variant | A/G | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2003 | 2008 | ||||||||
|
1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
0.720 | 0.667 | 2 | 2009 | 2013 | ||||||||
|
1.000 | 0.080 | 5 | 71719903 | missense variant | G/C | snv | 1.3E-04 | 6.3E-05 |
|
0.720 | 1.000 | 2 | 2006 | 2006 | |||||||
|
0.851 | 0.120 | 8 | 11319901 | non coding transcript exon variant | G/A | snv | 0.35 |
|
0.720 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 22078386 | intron variant | G/A | snv | 0.64 |
|
0.720 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
1.000 | 0.080 | 18 | 60372202 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 18 | 60372178 | missense variant | T/A | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 18 | 60372045 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 18 | 60372165 | missense variant | T/C | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 18 | 60372261 | missense variant | G/A | snv | 9.5E-05 | 7.0E-05 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 219470882 | intergenic variant | A/G | snv | 0.77 |
|
0.710 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.827 | 0.120 | 2 | 226241205 | intergenic variant | C/T | snv | 0.58 |
|
0.710 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.882 | 0.200 | 3 | 10289835 | missense variant | C/T | snv | 7.0E-03 | 7.3E-03 |
|
0.710 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 |
|
0.710 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 16 | 53782735 | intron variant | G/C | snv | 0.68 |
|
0.710 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.925 | 0.120 | 16 | 53776774 | intron variant | T/C | snv | 0.40 |
|
0.710 | 1.000 | 1 | 2007 | 2012 | ||||||||
|
0.925 | 0.160 | 16 | 53763996 | intron variant | C/G | snv | 0.49 |
|
0.710 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
1.000 | 0.080 | 18 | 60371901 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 18 | 60371544 | missense variant | A/T | snv | 1.0E-03 | 1.1E-04 |
|
0.710 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.200 | 16 | 53805223 | intron variant | T/A;C;G | snv |
|
0.710 | 1.000 | 1 | 2011 | 2018 |