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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 48923631 | intron variant | -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.040 | 19 | 53804069 | frameshift variant | -/AG | ins | 1.2E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
1 | 147468451 | intron variant | -/GTTCCTTC | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1 | 147468451 | intron variant | -/GTTCCTTC | delins | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 59039089 | 5 prime UTR variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 6 | 1388953 | upstream gene variant | A/C | snv | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | X | 139530726 | upstream gene variant | A/C | snv | 5.5E-06 | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 106539495 | missense variant | A/C | snv | 0.93 | 0.93 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.040 | 6 | 71484004 | intergenic variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 19 | 38455359 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
12 | 87757000 | upstream gene variant | A/C;G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.280 | 5 | 59193507 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
19 | 15189325 | synonymous variant | A/C;G;T | snv | 2.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |