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 | 36827948 | 3 prime UTR variant | T/C | snv | 0.44 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.040 | 10 | 60425736 | intron variant | C/T | snv | 7.9E-02 | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.040 | 13 | 42146563 | intron variant | G/A | snv | 0.23 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.040 | 13 | 42160758 | intron variant | T/C | snv | 0.46 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.040 | 13 | 42134315 | intron variant | A/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 81500549 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 5 | 138358306 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 13 | 42079301 | intron variant | C/A | snv | 0.85 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 14 | 57652478 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 121320830 | intergenic variant | A/G | snv | 0.16 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.040 | 19 | 19948684 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 3 | 52786995 | missense variant | A/G | snv | 0.40 | 0.42 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 6 | 166581772 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 6 | 98124244 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 12 | 49073211 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 7 | 55070695 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 40710794 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 1 | 165411386 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 1 | 147552120 | intron variant | C/T | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 79374802 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 60311283 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 3 | 85521809 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 7546298 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 114541631 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |