| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 7 | 54911231 | intergenic variant | C/T | snv | 0.27 |
|
0.860 | 0.833 | 6 | 2011 | 2017 | ||||||||
|
0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 |
|
0.850 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 55881198 | intron variant | C/T | snv | 0.36 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
1.000 | 0.040 | 13 | 108207498 | 3 prime UTR variant | C/T | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.882 | 0.040 | 3 | 169862183 | intron variant | G/A | snv | 0.25 |
|
0.820 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
1.000 | 0.040 | 14 | 22788980 | intron variant | T/C;G | snv |
|
0.020 | 0.500 | 2 | 2013 | 2017 | |||||||||
|
0.882 | 0.040 | 8 | 129629675 | intron variant | A/G | snv | 0.18 |
|
0.720 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 46278228 | synonymous variant | C/A;T | snv | 4.0E-06; 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 19 | 45352266 | synonymous variant | G/A | snv | 0.28 | 0.26 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 20 | 63743036 | 3 prime UTR variant | C/A;T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 10 | 129716598 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 27269953 | intron variant | C/T | snv | 7.1E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 4 | 121696590 | 5 prime UTR variant | G/A;C;T | snv | 0.12 | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 20 | 63694806 | missense variant | G/A | snv | 3.2E-03 | 1.1E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 3 | 66452557 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2017 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 151270497 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 4 | 121673909 | intron variant | T/C | snv | 8.3E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 9 | 15466782 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 14 | 22780330 | non coding transcript exon variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 14 | 22788107 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |