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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 16 | 31190961 | splice acceptor variant | A/- | del | 0.700 | 0 | |||||||||
|
5 | 0.827 | 0.080 | 19 | 17641880 | intron variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 2 | 171824168 | intron variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 10 | 2747402 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 4 | 108706869 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 16 | 31191421 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 2009 | 2016 | ||||||
|
4 | 0.851 | 0.080 | 3 | 143629403 | intron variant | A/G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 178681763 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 11 | 127846245 | intergenic variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 4 | 142054920 | intron variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 3 | 39492990 | intron variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 2 | 193714051 | intergenic variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 16 | 31191427 | missense variant | A/T | snv | 0.700 | 0 | |||||||||
|
4 | 0.851 | 0.080 | 14 | 67776358 | intron variant | C/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 3 | 51882999 | intergenic variant | C/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 2 | 207624377 | 5 prime UTR variant | C/A | snv | 0.19 | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.080 | 13 | 85529954 | intron variant | C/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 1 | 76660688 | intergenic variant | C/A | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 20 | 22691782 | intron variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 13 | 22046068 | intron variant | C/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.120 | 16 | 31191418 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.800 | 1.000 | 13 | 2009 | 2016 | ||||
|
4 | 0.851 | 0.080 | 2 | 212050001 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.040 | 16 | 31185061 | missense variant | C/G;T | snv | 1.3E-04; 4.1E-06 | 0.800 | 1.000 | 5 | 2009 | 2016 | ||||
|
5 | 0.827 | 0.080 | 9 | 27543384 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.080 | 13 | 53039424 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |