| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 41957421 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||||||
|
7 | 50360747 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2012 | 2017 | ||||||||||
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
9 | 4844265 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 3 | 2010 | 2013 | ||||||||||
|
20 | 57415349 | regulatory region variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 3 | 2012 | 2018 | ||||||||||
|
3 | 24309320 | intron variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 3 | 2010 | 2017 | ||||||||||
|
9 | 4856877 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
6 | 41957260 | intron variant | C/T | snv | 7.0E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
4 | 15601446 | 3 prime UTR variant | G/C;T | snv | 0.58; 9.4E-06 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
6 | 41957552 | intron variant | T/A | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||||
|
16 | 249924 | intron variant | A/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
3 | 24301839 | intron variant | T/C | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
4 | 54541595 | intergenic variant | C/G | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
10 | 46017981 | intron variant | A/G | snv | 2.5E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
4 | 54542832 | intergenic variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
5 | 1284020 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
2 | 62296430 | TF binding site variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
6 | 139519556 | intron variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
6 | 139518286 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2017 | |||||||||||
|
7 | 50360284 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
2 | 8616053 | intron variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 2 | 2016 | 2018 |