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 | 0.120 | 7 | 152690784 | regulatory region variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.732 | 0.240 | 8 | 18400285 | synonymous variant | C/T | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.776 | 0.200 | 14 | 77327940 | missense variant | T/A;C | snv | 4.0E-06; 0.81 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.320 | 7 | 75985688 | missense variant | C/T | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.160 | 8 | 89934373 | 3 prime UTR variant | T/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 12 | 12259861 | intron variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.160 | 1 | 163076561 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 18 | 45737317 | intron variant | T/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.240 | 9 | 21114238 | intergenic variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 17 | 73010373 | intron variant | A/C | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.160 | 6 | 43762018 | intergenic variant | G/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 10 | 102878107 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | 10 | 102878966 | missense variant | T/A;C | snv | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.160 | 1 | 24951491 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |