| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 233669782 | intron variant | C/T | snv | 4.0E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1 | 206480926 | intron variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||||
|
0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 16 | 55810697 | intron variant | G/A;T | snv | 8.0E-06; 0.73 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
5 | 80764197 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
14 | 103708630 | missense variant | G/A | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 80669717 | intron variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.040 | 6 | 160139849 | inframe deletion | GAT/- | delins | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.160 | 12 | 20862826 | missense variant | G/A | snv | 0.81 | 0.72 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 87549387 | synonymous variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.160 | 1 | 97402157 | intron variant | C/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
4 | 69108277 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
6 | 73040138 | intron variant | A/C | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |