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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 15 | 93598604 | intron variant | T/G | snv | 0.10 | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||
|
4 | 1.000 | 0.080 | 19 | 32865985 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2010 | 2018 | ||||
|
5 | 1.000 | 0.080 | 5 | 177390635 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 99844192 | intron variant | C/T | snv | 0.61 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
5 | 1.000 | 0.080 | 7 | 151710715 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
2 | 1.000 | 0.080 | 9 | 84611173 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 6 | 151873899 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 1.000 | 0.080 | 12 | 240132 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.080 | 14 | 67509105 | intron variant | A/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 10 | 1110225 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.080 | 10 | 19875064 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 73570410 | intron variant | G/C;T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 6 | 160130454 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.080 | 14 | 63773159 | intron variant | -/ATTT | delins | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 11 | 61774535 | intron variant | AAAAA/-;AAA;AAAA;AAAAAA | delins | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 15 | 45391597 | intron variant | G/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 56358353 | intron variant | G/A | snv | 6.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.120 | 14 | 81151652 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.200 | 10 | 59708831 | intron variant | G/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 105391125 | intron variant | A/C | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.160 | 16 | 20389517 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.080 | 5 | 39397030 | intron variant | T/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2010 | 2010 |