| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 18 | 30217168 | intergenic variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 19 | 1061893 | splice region variant | G/A;C | snv | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 1 | 159588626 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 11 | 116836182 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 21 | 26112051 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 21 | 26112127 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.200 | 21 | 26090015 | missense variant | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.120 | 18 | 31699870 | regulatory region variant | C/T | snv | 8.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 18 | 31681955 | intron variant | C/T | snv | 0.89 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.050 | 0.600 | 5 | 2013 | 2017 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.050 | 0.600 | 5 | 2013 | 2017 | ||||||||
|
0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 8 | 27598736 | non coding transcript exon variant | T/C | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 8 | 27604964 | missense variant | A/C;G | snv | 0.64 | 0.60 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
0.030 | 1.000 | 3 | 1994 | 2018 |