Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 6 | 150898848 | intron variant | -/A;ATA;ATTATG | ins | 5.8E-05; 4.3E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1 | 236884786 | intron variant | A/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 19 | 12940603 | missense variant | A/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 115684037 | missense variant | A/C;G | snv | 4.0E-03; 4.0E-06 | 1.7E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 0.080 | 2 | 169363371 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 8 | 103325139 | missense variant | A/C;G | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.882 | 68 | 1997 | 2019 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.100 | 0.846 | 13 | 1999 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.090 | 0.667 | 9 | 1997 | 2018 | |||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 6 | 151013801 | missense variant | A/G | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2009 | ||||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 1 | 84100906 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.200 | 5 | 7885846 | missense variant | A/G | snv | 0.18 | 0.21 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 17 | 28402435 | 3 prime UTR variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
11 | 0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
7 | 0.851 | 0.160 | 11 | 49206068 | stop lost | A/G | snv | 0.28 | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 6 | 151101614 | 3 prime UTR variant | A/G;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 14 | 58645694 | missense variant | A/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 84220882 | intron variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.160 | 6 | 10400802 | intron variant | AGA/- | delins | 6.8E-02 | 6.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 10 | 133297981 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 4 | 109539620 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |