| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.900 | 0.867 | 11 | 2008 | 2019 | ||||||||
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.880 | 1.000 | 8 | 2008 | 2019 | ||||||||
|
0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv |
|
0.880 | 1.000 | 8 | 2009 | 2019 | |||||||||
|
0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv |
|
0.080 | 0.875 | 8 | 2010 | 2019 | |||||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.070 | 0.714 | 7 | 2009 | 2017 | ||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.770 | 1.000 | 7 | 2011 | 2019 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.050 | 0.800 | 5 | 2009 | 2016 | ||||||||
|
0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 |
|
0.050 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv |
|
0.040 | 1.000 | 4 | 2007 | 2019 | |||||||||
|
0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2002 | 2010 | ||||||||
|
0.882 | 0.200 | 7 | 74779296 | missense variant | G/A | snv | 1.1E-03 |
|
0.040 | 1.000 | 4 | 2017 | 2020 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.040 | 0.750 | 4 | 2004 | 2016 | ||||||||
|
0.851 | 0.320 | 1 | 161624624 | missense variant | G/A;C | snv | 4.0E-06; 2.8E-05 |
|
0.040 | 1.000 | 4 | 2002 | 2010 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.830 | 1.000 | 3 | 2009 | 2017 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2008 | 2017 | ||||||||
|
0.851 | 0.240 | 16 | 3657746 | missense variant | G/A;T | snv | 0.36; 4.0E-06 |
|
0.030 | 0.667 | 3 | 2004 | 2013 | ||||||||
|
0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 |
|
0.730 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
0.030 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 1.000 | 3 | 2008 | 2017 | |||||||||
|
0.882 | 0.240 | 17 | 7559238 | missense variant | G/A;C | snv | 0.13; 4.2E-06 |
|
0.030 | 0.667 | 3 | 2007 | 2017 | ||||||||
|
0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv |
|
0.030 | 0.333 | 3 | 2012 | 2015 | |||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 |
|
0.030 | 1.000 | 3 | 2002 | 2013 | ||||||||
|
0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 |
|
0.030 | 1.000 | 3 | 2009 | 2019 |