Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 19 | 32865985 | intron variant | T/C | snv | 0.36 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||
|
5 | 0.925 | 0.080 | 19 | 10679486 | intron variant | T/C | snv | 0.76 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
9 | 0.807 | 0.160 | 22 | 36299201 | intron variant | G/T | snv | 0.78 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
5 | 1.000 | 0.080 | 7 | 151710715 | intron variant | G/A | snv | 0.26 | 0.710 | 0.667 | 3 | 2010 | 2018 | ||||
|
4 | 1.000 | 0.080 | 12 | 240132 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
4 | 1.000 | 0.080 | 10 | 1110225 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
4 | 1.000 | 0.080 | 5 | 39397030 | intron variant | T/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
7 | 0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
5 | 0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
4 | 1.000 | 0.080 | 6 | 160247357 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
4 | 1.000 | 0.080 | 3 | 142088295 | intron variant | C/A | snv | 0.74 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
4 | 1.000 | 0.080 | 9 | 68819791 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
4 | 1.000 | 0.080 | 15 | 53654396 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
5 | 1.000 | 0.080 | 13 | 71773564 | intron variant | A/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
5 | 1.000 | 0.080 | 5 | 177390635 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2008 | 2014 | |||||
|
7 | 0.882 | 0.200 | 6 | 43838872 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 6 | 134225547 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.080 | 9 | 84611173 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 14 | 67509105 | intron variant | A/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 10 | 19875064 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 17 | 39475671 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.080 | 6 | 160130454 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.080 | 14 | 63773159 | intron variant | -/ATTT | delins | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 |