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 | 0.040 | 0.750 | 4 | 2008 | 2014 | ||||
|
9 | 0.790 | 0.160 | 12 | 57140687 | intron variant | G/A;C | snv | 0.840 | 1.000 | 4 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.040 | 21 | 38447907 | intron variant | C/A;T | snv | 0.720 | 1.000 | 3 | 2017 | 2020 | |||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
2 | 0.925 | 0.120 | 8 | 117013406 | intron variant | T/A;G | snv | 0.710 | 1.000 | 2 | 2011 | 2015 | |||||
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.810 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 30620836 | intron variant | C/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 34825306 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 121662964 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 1 | 154455807 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 6 | 22004398 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 3 | 148725481 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 57138966 | intron variant | G/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 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 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 83498217 | intron variant | G/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 5 | 7868430 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 11 | 68391684 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 20 | 45957384 | intron variant | C/T | snv | 0.12 | 0.010 | < 0.001 | 1 | 2020 | 2020 |