| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.070 | 0.857 | 7 | 2010 | 2014 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.040 | 0.250 | 4 | 2010 | 2015 | |||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.020 | 1.000 | 2 | 2001 | 2019 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.020 | 0.500 | 2 | 2012 | 2014 | |||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 1 | 27884892 | non coding transcript exon variant | A/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 1 | 110018293 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.120 | 1 | 3716166 | intron variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.160 | 1 | 46349419 | intron variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.160 | 1 | 109667284 | intron variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 1 | 3731781 | intron variant | G/A | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 1 | 236786561 | intergenic variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.120 | 1 | 236808698 | splice region variant | C/T | snv | 3.8E-02 | 5.6E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.240 | 1 | 241889740 | 3 prime UTR variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 |
|
0.020 | 1.000 | 2 | 2009 | 2014 | |||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 2 | 151286035 | intron variant | G/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |