| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 0.872 | 78 | 2003 | 2019 | ||||||||
|
0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv |
|
0.900 | 0.873 | 62 | 2008 | 2019 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.684 | 19 | 2005 | 2020 | |||||||||
|
0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv |
|
0.100 | 0.900 | 10 | 2008 | 2019 | |||||||||
|
0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.090 | 0.667 | 9 | 2000 | 2015 | ||||||||
|
0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv |
|
0.880 | 1.000 | 8 | 2009 | 2018 | |||||||||
|
0.807 | 0.120 | 13 | 105516850 | intergenic variant | C/A;T | snv |
|
0.070 | 0.714 | 7 | 2006 | 2018 | |||||||||
|
0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv |
|
0.060 | 1.000 | 6 | 2009 | 2018 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.050 | 0.600 | 5 | 2001 | 2019 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.050 | 0.800 | 5 | 2006 | 2010 | ||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.750 | 1.000 | 5 | 2015 | 2019 | ||||||||
|
0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins |
|
0.050 | 1.000 | 5 | 2007 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 44821583 | intron variant | A/C;G | snv |
|
0.840 | 0.750 | 4 | 2011 | 2017 | |||||||||
|
0.925 | 0.080 | 12 | 108884971 | intron variant | T/A;G | snv | 0.40 |
|
0.040 | 1.000 | 4 | 2006 | 2012 | ||||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.040 | 1.000 | 4 | 2009 | 2012 | |||||||||
|
0.827 | 0.200 | 22 | 19962740 | missense variant | G/A;T | snv | 4.8E-05; 1.4E-02 |
|
0.040 | 1.000 | 4 | 2005 | 2011 | ||||||||
|
0.827 | 0.120 | 1 | 36859876 | missense variant | A/C;G | snv | 0.27; 9.2E-05 |
|
0.040 | 0.750 | 4 | 2002 | 2010 | ||||||||
|
0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.040 | 0.750 | 4 | 2007 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 1.000 | 3 | 2001 | 2011 | |||||||||
|
1.000 | 0.040 | 6 | 28259826 | missense variant | C/A;T | snv | 0.12 |
|
0.830 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.827 | 0.040 | 2 | 170816965 | 5 prime UTR variant | G/A;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2016 | |||||||||
|
1.000 | 0.040 | 8 | 22691277 | synonymous variant | G/A;T | snv | 4.0E-06; 9.6E-02 |
|
0.030 | 1.000 | 3 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 7 | 150974126 | intron variant | C/A;T | snv |
|
0.030 | 1.000 | 3 | 2010 | 2019 | |||||||||
|
0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2007 | 2012 | |||||||||
|
1.000 | 0.040 | 5 | 79738839 | missense variant | C/G;T | snv | 0.10; 2.0E-05 |
|
0.030 | 0.667 | 3 | 2014 | 2018 |