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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 33060745 | intron variant | G/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 4 | 142693109 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 38691214 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 |
|
0.840 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
1.000 | 0.040 | 4 | 168569930 | intron variant | A/G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 87254878 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 87254878 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 87254878 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 164159753 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 66949786 | regulatory region variant | A/G | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 7519419 | intron variant | C/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 188951696 | intergenic variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 87931491 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 4 | 89822180 | 3 prime UTR variant | C/T | snv | 0.58 | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 173660916 | downstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 4 | 4717767 | intron variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 4717767 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 4717767 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 7 | 30897563 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 7 | 30897563 | intron variant | T/A;C | snv |
|
0.830 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 4 | 97002862 | intergenic variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 129748953 | non coding transcript exon variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 129748953 | non coding transcript exon variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 136606920 | intergenic variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 4 | 102969823 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |