| 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 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 1050875 | intron variant | A/G;T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 9748015 | missense variant | C/G | snv | 0.62 | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 4502189 | 3 prime UTR variant | T/C;G | snv | 0.51; 1.8E-05 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
15 | 65715634 | intron variant | A/T | snv | 0.33 | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
0.925 | 0.120 | 1 | 156285665 | missense variant | G/A | snv | 0.27 | 0.24 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
19 | 43774629 | intron variant | G/A | snv | 0.24 | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 25243590 | missense variant | T/C | snv | 0.20 | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
9 | 137205865 | missense variant | C/G | snv | 0.13 | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
8 | 41686157 | missense variant | G/A | snv | 2.3E-02 | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | |||||||
|
16 | 260381 | intron variant | G/A;C | snv | 1.1E-02 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
16 | 264781 | intron variant | G/A;T | snv | 2.9E-05; 6.5E-03 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 11 | 5227003 | missense variant | C/G;T | snv | 9.2E-04; 4.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
16 | 88721629 | missense variant | G/A | snv | 4.4E-04 | 4.7E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
3 | 133748533 | missense variant | T/A | snv | 1.6E-04 | 2.9E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
16 | 88787321 | upstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
11 | 5209677 | downstream gene variant | T/C | snv | 3.5E-02 |
|
0.800 | 1.000 | 3 | 2013 | 2019 |