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 | 10 | 113528742 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 0.882 | 0.080 | 4 | 149751362 | intron variant | G/A | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 5 | 159821007 | intron variant | C/T | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 173704454 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 0.827 | 0.080 | 4 | 74821455 | intergenic variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 2 | 47445584 | inframe deletion | CTC/- | delins | 0.700 | 0 | ||||||||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2009 | 2017 | |||||
|
2 | 1.000 | 0.080 | 1 | 67256533 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 13 | 28319505 | synonymous variant | A/C;G | snv | 8.0E-06; 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 7 | 152655054 | intron variant | C/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 20 | 43657322 | downstream gene variant | C/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 151776093 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 28489832 | intron variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 7 | 151654146 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 1 | 67237570 | intron variant | C/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 13 | 28390188 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |