| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 116736721 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
0.925 | 0.200 | 11 | 116741111 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
8 | 125465736 | upstream gene variant | G/A;C;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||||||
|
1.000 | 0.080 | 15 | 58387979 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
15 | 58438954 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
1.000 | 0.040 | 13 | 19526394 | intron variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
8 | 125469505 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
16 | 15036083 | missense variant | C/A;T | snv | 4.0E-06; 0.31 |
|
0.800 | 1.000 | 2 | 2013 | 2018 | ||||||||||
|
11 | 116784884 | missense variant | G/A;C | snv | 6.6E-02; 8.0E-06 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
7 | 116717990 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||||
|
8 | 125511281 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2018 | |||||||||||
|
8 | 20076385 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
7 | 25952206 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2013 | 2019 | |||||||||||
|
6 | 139518361 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 116799960 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.851 | 0.120 | 11 | 117037567 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
8 | 19982897 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
1.000 | 0.040 | 11 | 116830637 | stop gained | C/G;T | snv | 8.0E-06; 6.6E-04 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
17 | 43763481 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
7 | 73643687 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
16 | 56959974 | upstream gene variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 |