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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.800 | 1.000 | 11 | 2007 | 2019 | ||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.800 | 1.000 | 10 | 2009 | 2019 | |||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.800 | 1.000 | 9 | 2010 | 2019 | |||||
|
6 | 1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv | 0.800 | 1.000 | 7 | 2008 | 2019 | |||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 7 | 2011 | 2019 | |||||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 6 | 2010 | 2019 | |||||||
|
7 | 0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv | 0.800 | 1.000 | 5 | 2011 | 2018 | |||||
|
16 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 0.800 | 1.000 | 5 | 2008 | 2019 | ||||
|
5 | 1.000 | 0.080 | 15 | 58387979 | intron variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2015 | 2019 | |||||
|
5 | 1 | 39562508 | non coding transcript exon variant | A/C;G | snv | 0.800 | 1.000 | 5 | 2010 | 2018 | |||||||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.800 | 1.000 | 5 | 2009 | 2019 | |||||
|
4 | 1.000 | 0.200 | 12 | 109562388 | intron variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
10 | 0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||
|
2 | 19 | 8366697 | intron variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||||
|
2 | 8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
2 | 19 | 54288907 | intergenic variant | C/A;G | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
5 | 0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2008 | 2019 | |||||
|
7 | 1.000 | 0.040 | 19 | 44945208 | missense variant | T/A;G | snv | 3.6E-05; 0.39 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
10 | 1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2008 | 2016 | |||||
|
3 | 18 | 49634583 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
4 | 1.000 | 0.040 | 15 | 58401821 | intron variant | G/A;T | snv | 0.800 | 1.000 | 3 | 2011 | 2019 |