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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.040 | 1.000 | 4 | 2011 | 2016 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.040 | 0.750 | 4 | 2009 | 2012 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.720 | 1.000 | 4 | 2009 | 2016 | ||||
|
3 | 0.925 | 0.080 | 7 | 18992312 | intron variant | C/T | snv | 0.13 | 0.830 | 1.000 | 3 | 2012 | 2015 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2014 | |||||
|
16 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 11 | 78074911 | intron variant | T/C | snv | 0.38 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2005 | 2019 | ||||
|
3 | 0.925 | 0.200 | 7 | 18933395 | intron variant | A/G | snv | 6.0E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
4 | 0.925 | 0.120 | 8 | 1906652 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.020 | < 0.001 | 2 | 2013 | 2017 | |||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.710 | 1.000 | 2 | 2010 | 2016 | ||||
|
9 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 13 | 110181552 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2018 | 2018 | |||||||
|
6 | 0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
9 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 1.000 | 9 | 109053060 | intron variant | C/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 8 | 39912430 | intron variant | G/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.827 | 0.120 | 9 | 21853340 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 |