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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1 | 96427444 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 1 | 201815159 | intron variant | A/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1 | 48972333 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 1.000 | 0.040 | 1 | 77998184 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1 | 177909798 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 1.000 | 0.080 | 1 | 72371556 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1 | 109540264 | intron variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 653245 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 223072020 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 96882719 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 2 | 226228086 | intergenic variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 2 | 226222568 | intergenic variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 621603 | intergenic variant | -/T | ins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 2 | 466003 | intergenic variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 2 | 59080590 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 2 | 635721 | intergenic variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 180507117 | regulatory region variant | A/G | snv | 3.0E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 28124815 | intron variant | C/T | snv | 6.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 58565242 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.925 | 0.120 | 3 | 186106215 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 3 | 150469527 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 35156031 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 3 | 61247301 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |