| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.200 | 3 | 157429779 | intron variant | A/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 0.875 | 8 | 2002 | 2017 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.020 | 0.500 | 2 | 2009 | 2019 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.160 | 1 | 241879243 | missense variant | A/G | snv | 0.66 | 0.66 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 14 | 23309489 | 3 prime UTR variant | A/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.240 | 1 | 241846814 | upstream gene variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 127901009 | intron variant | A/G | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 9 | 22064466 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |