| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.400 | 3 | 189868624 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.280 | 1 | 42929008 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.040 | 0.750 | 4 | 1998 | 2019 | |||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
0.040 | 1.000 | 4 | 2004 | 2010 | |||||||
|
0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 |
|
0.030 | 1.000 | 3 | 2010 | 2012 | ||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.020 | 0.500 | 2 | 2011 | 2013 | ||||||||
|
0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.807 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 |
|
0.020 | 0.500 | 2 | 2015 | 2018 | ||||||||
|
0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 2 | 70450307 | 3 prime UTR variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.120 | 8 | 87856112 | intergenic variant | C/A | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.280 | 10 | 120865109 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.280 | 9 | 137453808 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.280 | 7 | 84014246 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.200 | 16 | 84838445 | 5 prime UTR variant | G/A;C | snv | 8.6E-06; 0.67 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.200 | 2 | 218889997 | synonymous variant | C/T | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 17 | 28398728 | 3 prime UTR variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.200 | 22 | 36288308 | missense variant | T/C | snv | 0.26 | 0.18 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 2 | 70450336 | 3 prime UTR variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 4862018 | intron variant | C/A | snv | 0.30 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 |