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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 12 | 120691123 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 117236324 | intron variant | C/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 13 | 110291574 | intron variant | C/T | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 7 | 151010703 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.040 | 8 | 64379319 | intron variant | A/G | snv | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 13 | 110229026 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 17 | 36065936 | intron variant | G/A | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 12 | 117232109 | synonymous variant | G/A | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 8 | 9903310 | non coding transcript exon variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 12 | 120694297 | intron variant | C/T | snv | 7.3E-05; 0.43 | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 10 | 110122249 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 21 | 33026408 | 5 prime UTR variant | C/T | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 4 | 87977789 | non coding transcript exon variant | C/T | snv | 0.54 | 0.46 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 1 | 113896329 | missense variant | A/G | snv | 0.30 | 0.42 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 19 | 44909083 | missense variant | G/A | snv | 2.0E-04 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 19 | 44893408 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 21 | 33025263 | intron variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 19 | 44907843 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 2 | 113241628 | missense variant | C/G;T | snv | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 21 | 33028471 | 3 prime UTR variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 19 | 44905371 | upstream gene variant | T/C | snv | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 21 | 33029641 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 2 | 32137172 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 13 | 110176912 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 |
|
0.700 | 0 |