| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 65623846 | intron variant | G/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
19 | 11232027 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
3 | 52498102 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||||
|
1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 15 | 58401821 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
7 | 150832361 | intron variant | T/C | snv | 8.2E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
3 | 132444356 | intron variant | G/T | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 8 | 19990569 | intergenic variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 61837342 | intron variant | C/A | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
8 | 19994534 | regulatory region variant | T/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
1.000 | 0.040 | 8 | 19995007 | regulatory region variant | C/T | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
19 | 51820963 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||||
|
1.000 | 0.040 | 16 | 56983750 | 3 prime UTR variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
6 | 127114919 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
3 | 50091966 | intron variant | C/T | snv | 0.61 | 0.56 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
19 | 8366697 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||||
|
1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2019 |