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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 17 | 56695877 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2017 | 2018 | |||||
|
8 | 0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 1998 | 2002 | |||||
|
4 | 0.882 | 0.120 | 8 | 87856112 | intergenic variant | C/A | snv | 0.68 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 | 0.710 | 0.500 | 2 | 2010 | 2015 | ||||
|
6 | 0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
14 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
4 | 0.851 | 0.120 | 10 | 117068049 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
5 | 0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 14 | 37068147 | intron variant | T/C | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 156369656 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 3 | 99784884 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 5 | 44068744 | upstream gene variant | C/A | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.925 | 0.120 | 9 | 95497421 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 8 | 76593073 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 10 | 117086783 | intron variant | C/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 112080999 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 15 | 74596822 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 2 | 219743055 | intergenic variant | CACAGAAT/- | delins | 0.54 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 81801266 | intergenic variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 2 | 179745354 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 2 | 70450307 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 1 | 19691584 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 10 | 96354046 | intron variant | A/T | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 14 | 105124634 | downstream gene variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 |