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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 8 | 127119564 | intron variant | G/A | snv | 1.0E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 |
|
0.710 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 11 | 7535346 | intron variant | A/G | snv | 6.6E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 22 | 38742327 | missense variant | G/A;T | snv | 2.2E-02; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 8 | 23668950 | intergenic variant | T/C | snv | 0.50 |
|
0.710 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 2 | 237534583 | missense variant | A/G | snv | 0.28 | 0.34 |
|
0.710 | 1.000 | 1 | 2011 | 2018 | |||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.710 | 0.750 | 1 | 2008 | 2019 | ||||||||
|
0.925 | 0.080 | 6 | 160160511 | downstream gene variant | -/G | delins | 0.31 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 15 | 46347610 | intron variant | G/A | snv | 0.49 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 14 | 64227194 | 3 prime UTR variant | C/T | snv | 2.4E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 19 | 50857584 | non coding transcript exon variant | C/G;T | snv |
|
0.710 | 0.500 | 1 | 2011 | 2015 | |||||||||
|
0.925 | 0.080 | 1 | 10496040 | intron variant | G/A | snv | 0.55 |
|
0.710 | 1.000 | 1 | 2014 | 2018 | ||||||||
|
0.882 | 0.160 | 11 | 2212344 | intergenic variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2009 | 2018 | |||||||||
|
0.925 | 0.080 | 14 | 60655808 | intron variant | C/A;G | snv |
|
0.710 | 1.000 | 1 | 2014 | 2018 | |||||||||
|
0.925 | 0.080 | 17 | 49359387 | intron variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2011 | 2015 | |||||||||
|
0.851 | 0.200 | 2 | 62904596 | intron variant | G/A | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2008 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 127062570 | intron variant | A/G;T | snv |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 3 | 128498656 | intron variant | A/G | snv | 8.3E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 10 | 79067076 | intron variant | A/G | snv | 5.4E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 127527115 | intergenic variant | T/G | snv | 0.91 |
|
0.710 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 175534948 | intron variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 |
|
0.710 | 1.000 | 1 | 2008 | 2018 | ||||||||
|
0.776 | 0.240 | 19 | 38244973 | intron variant | C/T | snv | 0.40 |
|
0.710 | 1.000 | 1 | 2009 | 2018 |