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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 30907166 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
1 | 62465961 | intron variant | C/A | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
8 | 10826419 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
11 | 116736721 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||||
|
1.000 | 0.040 | 8 | 19990569 | intergenic variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||
|
0.882 | 0.120 | 2 | 27578892 | missense variant | A/G | snv | 0.30 | 0.24 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | |||||||
|
8 | 125465736 | upstream gene variant | G/A;C;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||
|
1 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
19 | 19225799 | intron variant | C/T | snv | 9.4E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
19 | 19635342 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||||||
|
15 | 42391589 | intron variant | G/A | snv | 3.6E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
15 | 43953733 | intron variant | A/T | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2010 | 2019 |