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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 1.000 | 4 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.160 | 7 | 100722313 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2017 | |||||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 29215854 | intron variant | A/G | snv | 0.32 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
4 | 0.882 | 0.160 | 10 | 48491914 | intron variant | C/T | snv | 0.38 | 0.810 | 1.000 | 2 | 2011 | 2014 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
10 | 0.790 | 0.200 | 7 | 150997269 | intron variant | GGGGGTGAGGAAGTCTAGACCTGCTGCG/A | delins | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
3 | 0.882 | 0.160 | 6 | 84468550 | intron variant | T/C | snv | 0.52 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.160 | 7 | 29388454 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 10 | 48602322 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.160 | 13 | 77943119 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 5 | 125983763 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 82151406 | intron variant | T/A | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.160 | 14 | 96262416 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.280 | 10 | 19425625 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 9 | 114235944 | intron variant | G/A | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 109742339 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 94213172 | intron variant | A/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 34242693 | intron variant | -/C | delins | 7.7E-02; 5.8E-06 | 5.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 1 | 224260357 | intron variant | C/A | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 7085094 | intron variant | A/G | snv | 8.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 13 | 75609137 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 10 | 20253705 | intron variant | A/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 |