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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 7 | 100185286 | intron variant | C/T | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 101348402 | intron variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 8 | 101819970 | intron variant | G/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 9 | 104376689 | intergenic variant | A/G | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 10634850 | upstream gene variant | C/T | snv | 8.7E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 108737343 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 10903669 | intergenic variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 109063325 | intergenic variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.900 | 1.000 | 1 | 2005 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 113503698 | intergenic variant | C/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 113561238 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 115311376 | intergenic variant | -/CAA | ins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 7 | 117981823 | intergenic variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 11915124 | upstream gene variant | A/G | snv | 9.9E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 119445148 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 122392714 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 124546821 | intron variant | G/C | snv | 0.24 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 125302697 | intron variant | A/G | snv | 0.30 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 7 | 12741918 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 8 | 127636481 | non coding transcript exon variant | G/T | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 129236759 | intergenic variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 11 | 133925624 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |