| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 15 | 67181363 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 20 | 46012456 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 11 | 102799765 | intron variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 8 | 93780747 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 19 | 10284771 | intron variant | G/A | snv | 7.8E-03 | 3.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 18 | 47896706 | synonymous variant | T/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 88595498 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 6 | 131956291 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 11 | 5698520 | missense variant | G/A;C;T | snv | 4.0E-06; 0.50; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 12 | 112911065 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.827 | 0.200 | 1 | 231272345 | missense variant | A/G;T | snv | 0.16 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.200 | 22 | 37084836 | missense variant | C/T | snv | 6.4E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.200 | 22 | 37086414 | missense variant | T/C | snv | 5.2E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |