| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 |
|
0.900 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 |
|
0.900 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 |
|
0.900 | 0.923 | 1 | 2013 | 2020 | ||||||||
|
0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 |
|
0.880 | 1.000 | 1 | 2009 | 2019 | |||||||
|
0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv |
|
0.860 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 |
|
0.850 | 0.833 | 1 | 2011 | 2019 | ||||||||
|
0.851 | 0.200 | 8 | 27598736 | non coding transcript exon variant | T/C | snv | 0.69 |
|
0.840 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.851 | 0.080 | 11 | 60171834 | downstream gene variant | T/G | snv | 0.57 |
|
0.840 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 1050421 | intron variant | A/G | snv | 1.7E-02 |
|
0.830 | 0.667 | 1 | 2013 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 |
|
0.830 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.882 | 0.160 | 14 | 52933911 | intron variant | T/C | snv | 8.6E-02 |
|
0.830 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
0.882 | 0.120 | 8 | 27337604 | intron variant | T/C | snv | 0.32 |
|
0.830 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 47485642 | intron variant | G/C | snv | 0.23 |
|
0.830 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.925 | 0.160 | 11 | 47536319 | intron variant | T/C | snv | 0.22 |
|
0.820 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
0.851 | 0.120 | 6 | 150885942 | intron variant | G/A;T | snv |
|
0.820 | 0.667 | 1 | 2010 | 2011 | |||||||||
|
0.925 | 0.080 | 7 | 37801932 | intron variant | A/G;T | snv |
|
0.820 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 127135234 | regulatory region variant | C/T | snv | 0.39 |
|
0.820 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.851 | 0.080 | 8 | 27610169 | intron variant | C/G;T | snv |
|
0.820 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 |
|
0.810 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 127130409 | regulatory region variant | C/A | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 154426241 | intron variant | A/T | snv | 0.28 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 207612944 | intron variant | A/G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
1.000 | 0.080 | 15 | 64433291 | intron variant | T/C | snv | 1.6E-02 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.925 | 0.120 | 4 | 55802265 | downstream gene variant | A/G | snv | 0.23 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 11678309 | upstream gene variant | A/G | snv | 0.31 |
|
0.810 | 1.000 | 1 | 2013 | 2019 |