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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.070 | 0.714 | 7 | 2014 | 2018 | |||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2011 | 2013 | |||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 12 | 65598856 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 13 | 24243875 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 2 | 217429494 | intron variant | C/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 5 | 78910960 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 0.925 | 2 | 1492028 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.160 | 20 | 54173204 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 10 | 133538596 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 16 | 13938236 | intron variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 14 | 36090325 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 1 | 233280792 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 8 | 32543285 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.763 | 0.240 | 20 | 54156202 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 3 | 59559604 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 14 | 75513546 | intergenic variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 16 | 13806476 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |