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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2008 | |||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2013 | ||||||||
|
0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2009 | |||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2002 | 2013 | |||||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2010 | |||||||||
|
0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2014 | ||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 3 | 2002 | 2019 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | |||||||
|
0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 |
|
0.030 | 1.000 | 3 | 2006 | 2012 | |||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.827 | 0.120 | 7 | 76301442 | upstream gene variant | C/G | snv | 0.22 |
|
0.030 | 1.000 | 3 | 2011 | 2013 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.851 | 0.080 | 15 | 81290798 | intron variant | G/T | snv | 0.30 |
|
0.030 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.763 | 0.240 | 10 | 99782821 | 5 prime UTR variant | C/T | snv | 0.17 | 0.15 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | |||||||
|
0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv |
|
0.710 | 1.000 | 3 | 2007 | 2016 | |||||||||
|
0.790 | 0.240 | 19 | 45369135 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 0.667 | 3 | 2011 | 2012 | |||||||
|
0.827 | 0.080 | 19 | 41259690 | missense variant | T/C | snv | 1.6E-05 | 5.6E-05 |
|
0.030 | 1.000 | 3 | 2016 | 2019 | |||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | |||||||
|
1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv |
|
0.030 | 1.000 | 3 | 2011 | 2018 | |||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 |