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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.800 | 1.000 | 5 | 2009 | 2013 | ||||
|
4 | 6 | 25842723 | intron variant | T/G | snv | 4.0E-02 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||||
|
6 | 22 | 37074184 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 3 | 2009 | 2017 | ||||||
|
3 | 6 | 139517282 | intron variant | C/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
4 | 7 | 50360284 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
13 | 6 | 135097778 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||||
|
7 | 6 | 41957421 | intron variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2009 | 2018 | |||||||
|
7 | 9 | 4852599 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
4 | 9 | 4856877 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
5 | 6 | 41957260 | intron variant | C/T | snv | 7.0E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 16 | 259156 | intron variant | C/A | snv | 0.19 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
5 | 14 | 65020976 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 16 | 120077 | intron variant | G/C | snv | 2.5E-02 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
4 | 1.000 | 0.040 | 16 | 190281 | intron variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 16 | 88500003 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 3 | 20064181 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
14 | 16 | 249924 | intron variant | A/G | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 22 | 36362502 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 14 | 73771327 | intron variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
7 | 3 | 24301839 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
3 | 20 | 53605567 | intron variant | C/T | snv | 8.1E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 1 | 3080038 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 11 | 2298783 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
8 | 6 | 25821542 | intron variant | C/T | snv | 6.1E-02 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||||
|
8 | 10 | 69334748 | intron variant | T/C | snv | 6.4E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 |