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 | 7 | 18999982 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 8 | 39912430 | intron variant | G/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 12295228 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 12 | 2681964 | missense variant | C/T | snv | 4.0E-06; 0.78 | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 11 | 27706555 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 3756587 | intergenic variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 55485623 | synonymous variant | G/C | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 14 | 94464768 | missense variant | A/G | snv | 0.78 | 0.71 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 19 | 29580124 | intergenic variant | C/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 10 | 113146078 | missense variant | G/A | snv | 4.0E-06 | 7.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 2 | 187446788 | intron variant | T/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 170066485 | splice region variant | A/G;T | snv | 0.57; 4.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 12292295 | intron variant | G/A | snv | 5.6E-02 | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 14 | 36205321 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 49200333 | synonymous variant | T/A | snv | 0.31 | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 9 | 133257246 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 18996297 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 2585472 | missense variant | C/G;T | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 9 | 133424254 | intron variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 57690889 | regulatory region variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 36140472 | intron variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 55505279 | intron variant | C/G | snv | 0.50 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 1257506 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 36182597 | intergenic variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2016 | 2016 |