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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.080 | 0.875 | 8 | 2010 | 2020 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.060 | 0.833 | 6 | 2010 | 2019 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.050 | 0.800 | 5 | 2010 | 2020 | ||||
|
2 | 1.000 | 0.080 | 5 | 60206693 | intron variant | A/G | snv | 0.57 | 0.050 | 0.800 | 5 | 2005 | 2020 | ||||
|
2 | 1.000 | 0.080 | 13 | 30734192 | intron variant | T/A;G | snv | 0.040 | 0.750 | 4 | 2011 | 2019 | |||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.040 | 0.750 | 4 | 2013 | 2020 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.030 | 0.667 | 3 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 111795214 | intron variant | T/C | snv | 0.53 | 0.720 | 1.000 | 3 | 2014 | 2018 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.030 | 1.000 | 3 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 39302834 | intron variant | C/A | snv | 0.030 | 1.000 | 3 | 2010 | 2014 | |||||
|
2 | 0.925 | 0.120 | 5 | 60487490 | intron variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | < 0.001 | 3 | 2006 | 2015 | |||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.030 | 1.000 | 3 | 2009 | 2019 | ||||
|
4 | 0.882 | 0.160 | 13 | 30732134 | intron variant | G/A | snv | 0.49 | 0.030 | 0.333 | 3 | 2012 | 2019 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.720 | 1.000 | 3 | 2013 | 2018 | |||||
|
13 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 0.720 | 0.667 | 3 | 2016 | 2018 | |||||
|
2 | 1.000 | 0.080 | 5 | 60401476 | intron variant | C/T | snv | 0.36 | 0.030 | 0.667 | 3 | 2012 | 2016 | ||||
|
8 | 0.851 | 0.200 | 1 | 46931231 | intron variant | C/T | snv | 9.4E-02 | 0.030 | 1.000 | 3 | 2015 | 2016 | ||||
|
6 | 0.851 | 0.160 | 13 | 30736442 | intron variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
7 | 0.827 | 0.120 | 9 | 22103814 | intron variant | A/G | snv | 0.63 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
4 | 0.882 | 0.160 | 9 | 22061615 | intron variant | A/G | snv | 0.73 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 6229417 | intron variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 30725416 | intron variant | G/A | snv | 6.9E-02 | 0.020 | 0.500 | 2 | 2008 | 2019 |