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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 6 | 4979722 | downstream gene variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 10 | 33799125 | regulatory region variant | T/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 6 | 32625467 | upstream gene variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.040 | 12 | 94733833 | regulatory region variant | T/A;C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 33917852 | upstream gene variant | G/C | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 17 | 41741012 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 3 | 189487243 | intergenic variant | T/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 10 | 67849782 | non coding transcript exon variant | C/A | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 7938243 | upstream gene variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.040 | 13 | 99389484 | downstream gene variant | G/C | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 9 | 16913838 | upstream gene variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.040 | 4 | 43211547 | intron variant | T/G | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 13 | 99395250 | intergenic variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 89172624 | regulatory region variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 2 | 275197 | missense variant | C/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.120 | 14 | 104769221 | upstream gene variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |