| 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 | 1 | 175157287 | 3 prime UTR variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 178548873 | non coding transcript exon variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 1 | 36356711 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 5734948 | intergenic variant | A/G | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 1 | 38927359 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 31411078 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
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 | 1 | 175155900 | downstream gene variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 175150943 | downstream gene variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 1 | 216600151 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 236600564 | intergenic variant | G/A | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 2 | 226115660 | intergenic variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 165633833 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 49957256 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 2 | 55278320 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 2 | 129236759 | intergenic variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 59316241 | intron variant | G/A | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 2 | 137469872 | intron variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 200703710 | intron variant | C/T | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 2 | 44911368 | intergenic variant | A/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 197349672 | intergenic variant | C/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 44915534 | intergenic variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |