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 | 1.000 | 0.040 | 2 | 144734815 | intron variant | C/G | snv | 5.9E-02 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 5 | 150898347 | intron variant | A/G | snv | 8.8E-02 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 6 | 143577757 | intron variant | A/G | snv | 4.8E-02 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
5 | 0.851 | 0.240 | 10 | 79300560 | intron variant | C/A | snv | 0.27 | 0.810 | 1.000 | 2 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 6039267 | intron variant | C/A | snv | 0.13 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.080 | 9 | 114881082 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
6 | 0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
8 | 0.790 | 0.320 | 19 | 17193427 | intron variant | C/A | snv | 0.44 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
5 | 0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 8 | 129611859 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
6 | 0.827 | 0.120 | 19 | 1124032 | intron variant | G/A | snv | 0.24 | 0.26 | 0.700 | 1.000 | 2 | 2015 | 2017 | |||
|
5 | 0.882 | 0.160 | 5 | 132435113 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
9 | 0.776 | 0.200 | 22 | 21568615 | intron variant | G/T | snv | 0.18 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
9 | 0.776 | 0.240 | 21 | 33404389 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
4 | 0.882 | 0.280 | 19 | 17183487 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
3 | 0.925 | 0.040 | 22 | 39263768 | intron variant | C/T | snv | 0.19 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 197732149 | intron variant | G/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
9 | 0.807 | 0.200 | 16 | 28506388 | intron variant | T/C | snv | 0.43 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
6 | 0.827 | 0.120 | 1 | 200132792 | intron variant | A/G | snv | 0.84 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 21 | 15445619 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 10 | 35177257 | intron variant | T/G | snv | 0.33 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 9 | 21966222 | intron variant | G/A | snv | 0.22 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 111526988 | intron variant | A/T | snv | 9.7E-02 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 5 | 38867630 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2015 | 2017 |