| 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 | 0.200 | 10 | 102832492 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 3 | 119808929 | intron variant | T/C | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 10 | 121485414 | missense variant | C/T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 10 | 121520026 | missense variant | C/T | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 9 | 124493083 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 9 | 124493110 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.200 | 9 | 124500523 | missense variant | C/A;G | snv | 4.3E-06; 0.10 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 9 | 124500585 | synonymous variant | C/A;T | snv | 2.2E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 3 | 128173194 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 8 | 129478919 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 6 | 143568902 | intron variant | G/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | X | 150470307 | missense variant | A/G | snv | 1.1E-05 | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | X | 150470715 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 6 | 152055389 | intron variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 156419058 | intergenic variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 5 | 158490267 | intron variant | G/A | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 7 | 17296411 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 1 | 212619442 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 7 | 27128971 | splice region variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 7 | 27745330 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 3 | 30602723 | upstream gene variant | G/A | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |