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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.800 | 1.000 | 17 | 2008 | 2019 | ||||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.800 | 1.000 | 5 | 2012 | 2019 | |||
|
14 | 0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||
|
4 | 19 | 11089332 | upstream gene variant | C/T | snv | 3.3E-03 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||||
|
4 | 19 | 11116650 | intron variant | C/A;G | snv | 0.34 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
3 | 19 | 11118542 | intron variant | A/G | snv | 0.34 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||||
|
3 | 19 | 11091784 | intron variant | T/A | snv | 6.4E-03 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
4 | 19 | 11087511 | upstream gene variant | C/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.120 | 19 | 11131631 | 3 prime UTR variant | G/C | snv | 0.82 | 0.80 | 0.700 | 1.000 | 2 | 2017 | 2018 | |||
|
6 | 0.851 | 0.160 | 19 | 11111624 | missense variant | G/A | snv | 4.3E-02 | 8.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 19 | 11103857 | non coding transcript exon variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 19 | 11118289 | intron variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 11125504 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 19 | 11132769 | 3 prime UTR variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.851 | 0.200 | 19 | 11120205 | synonymous variant | T/C | snv | 0.42 | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.827 | 0.200 | 19 | 11113589 | synonymous variant | A/G | snv | 0.63 | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 19 | 11131239 | intron variant | A/G | snv | 0.45 | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 19 | 11095899 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.080 | 19 | 11110681 | missense variant | G/A | snv | 8.8E-04 | 3.9E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 19 | 11095299 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 19 | 11095854 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |