Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 3 | 20683524 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 126084807 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 5 | 43054645 | intron variant | A/G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
3 | 0.925 | 0.040 | 1 | 96513405 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 15 | 47438673 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.040 | 1 | 165411386 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 13 | 108163877 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 84412778 | intron variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 10 | 52014152 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 52017283 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 10 | 52019720 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 28966665 | intergenic variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 232802953 | upstream gene variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 8 | 92392214 | intergenic variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 116571404 | intron variant | C/A;G | snv | 0.16 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 10539308 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 78795698 | intergenic variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 43610348 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 132742896 | intron variant | A/G | snv | 0.33 | 0.800 | 1.000 | 1 | 2008 | 2008 |