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 | 0.080 | 19 | 941603 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 6383483 | intron variant | A/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 4 | 971991 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 5 | 35837132 | regulatory region variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 102249813 | downstream gene variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 22 | 39298220 | downstream gene variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 102524958 | intron variant | A/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 122628544 | intron variant | T/C | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 102625147 | intergenic variant | A/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 67324915 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 1 | 197735587 | splice region variant | C/G;T | snv | 4.0E-06; 0.17 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 32699394 | intergenic variant | A/T | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 27386677 | intergenic variant | A/G | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 22 | 39351775 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 16 | 27402245 | 5 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.200 | 1 | 116561593 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 4 | 102527884 | intron variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 5 | 159332892 | non coding transcript exon variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 58220544 | downstream gene variant | G/T | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.200 | 6 | 32442914 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 12 | 6339949 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 3296763 | intron variant | G/T | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 203778471 | upstream gene variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |