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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 3 | 52780240 | non coding transcript exon variant | T/A | snv | 0.44; 3.1E-03; 1.5E-04; 1.0E-05 | 0.42 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 81500549 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 5 | 138358306 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 2 | 20934123 | intergenic variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 7 | 1881190 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.040 | 19 | 19948684 | intron variant | G/A | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 6 | 166581772 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 12 | 49073211 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 40710794 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 1 | 165411386 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 9 | 114541631 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 12 | 48995537 | 3 prime UTR variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 5 | 141945684 | synonymous variant | T/C;G | snv | 0.98; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 12 | 2277933 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 12 | 99102252 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 12 | 66422359 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 12 | 87334666 | intergenic variant | C/T | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 12 | 49028311 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 68487269 | upstream gene variant | G/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 110015049 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 11 | 66177715 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.040 | 9 | 28752486 | intergenic variant | A/G | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |