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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 209721316 | intron variant | G/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 4 | 140568842 | 5 prime UTR variant | T/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 6291623 | intron variant | T/C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | 7 | 29388454 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 23864492 | intron variant | A/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 34253212 | upstream gene variant | T/A | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 95586935 | non coding transcript exon variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 7 | 36819038 | non coding transcript exon variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 6 | 39048860 | missense variant | C/T | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 39079018 | missense variant | G/A | snv | 1.0E-02 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 20 | 44424278 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.160 | 6 | 151873899 | intron variant | G/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 1 | 65432298 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 45767209 | intron variant | T/C | snv | 7.9E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 119210869 | intron variant | A/G | snv | 0.94 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 18 | 76849628 | missense variant | A/G;T | snv | 4.1E-06; 4.1E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
1.000 | 0.080 | 2 | 210591913 | missense variant | A/G;T | snv | 0.57; 3.7E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 21 | 36140267 | intron variant | A/G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |