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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
10 | 0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2011 | 2019 | |||||
|
4 | 11 | 116748357 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2008 | 2019 | |||||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.800 | 1.000 | 5 | 2009 | 2019 | |||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
8 | 0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2008 | 2019 | |||||
|
4 | 8 | 125470379 | intron variant | C/A;T | snv | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||||
|
6 | 8 | 125469505 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
1 | 11 | 116784884 | missense variant | G/A;C | snv | 6.6E-02; 8.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2009 | 2019 | |||||||
|
7 | 4 | 3442204 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
7 | 0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2011 | 2018 | |||||
|
6 | 8 | 18415790 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
4 | 15 | 43434427 | intron variant | A/C;G | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
5 | 11 | 116736721 | regulatory region variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2008 | 2019 | |||||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2010 | 2019 | |||||
|
10 | 8 | 125465736 | upstream gene variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2011 | 2019 | |||||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
5 | 19 | 19635342 | intron variant | G/C;T | snv | 0.800 | 1.000 | 3 | 2009 | 2019 | |||||||
|
5 | 15 | 58438954 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||
|
4 | 10 | 50814012 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-03 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 22 | 38150026 | non coding transcript exon variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2010 | 2018 |