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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2008 | 2017 | ||||
|
6 | 0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 138058845 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 138045676 | intron variant | C/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.160 | 9 | 22061615 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 12 | 102419854 | intron variant | C/T | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.240 | 12 | 102477481 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.200 | 19 | 3604731 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 1 | 150757803 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 12 | 124814823 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 9 | 21972446 | intron variant | C/T | snv | 6.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 237861218 | intron variant | G/A | snv | 2.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.160 | 1 | 173187153 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | 13 | 30732134 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 13 | 30745981 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 13 | 30735693 | intron variant | C/A | snv | 0.41 | 0.47 | 0.010 | 1.000 | 1 | 2008 | 2008 |