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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 4 | 54528005 | intergenic variant | C/T | snv | 0.18 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
4 | 3 | 24309320 | intron variant | A/G | snv | 0.69 | 0.800 | 1.000 | 4 | 2010 | 2017 | ||||||
|
7 | 6 | 41957421 | intron variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2009 | 2018 | |||||||
|
3 | 7 | 50360747 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 3 | 2012 | 2017 | ||||||
|
5 | 9 | 4844265 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 3 | 2010 | 2013 | ||||||
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 3 | 2010 | 2013 | |||||||
|
7 | 20 | 57415349 | regulatory region variant | T/C | snv | 0.58 | 0.700 | 1.000 | 3 | 2012 | 2018 | ||||||
|
4 | 9 | 4856877 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
5 | 6 | 41957260 | intron variant | C/T | snv | 7.0E-03 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
2 | 4 | 15601446 | 3 prime UTR variant | G/C;T | snv | 0.58; 9.4E-06 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
5 | 6 | 41957552 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2009 | 2016 | ||||||
|
14 | 16 | 249924 | intron variant | A/G | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
6 | 1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
7 | 3 | 24301839 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
2 | 4 | 54541595 | intergenic variant | C/G | snv | 0.17 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||||
|
2 | 10 | 46017981 | intron variant | A/G | snv | 2.5E-02 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
10 | 4 | 54542832 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
6 | 22 | 37074184 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
12 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
5 | 5 | 1284020 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
5 | 2 | 62296430 | TF binding site variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
6 | 6 | 139519556 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
5 | 6 | 139512875 | intron variant | T/G | snv | 0.57 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||||
|
4 | 6 | 139518286 | intron variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2009 | 2017 | |||||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 |