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 | 19 | 58170494 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
3 | 1 | 55052487 | intron variant | C/A;G | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
4 | 2 | 21018633 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
5 | 2 | 20994618 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
6 | 11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
6 | 8 | 9323885 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
4 | 19 | 19225799 | intron variant | C/T | snv | 9.4E-02 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
5 | 10 | 112174128 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||||
|
3 | 1 | 55052794 | splice region variant | A/G | snv | 0.42 | 0.49 | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
2 | 20 | 17864040 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
3 | 2 | 62922422 | intron variant | G/A | snv | 0.72 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
4 | 17 | 7188331 | downstream gene variant | T/C | snv | 0.37 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
3 | 19 | 44793549 | missense variant | C/G;T | snv | 2.4E-02 | 3.3E-02 | 0.700 | 1.000 | 3 | 2014 | 2019 | |||||
|
2 | 5 | 75343434 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
3 | 5 | 123519722 | intron variant | G/A | snv | 0.61 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
2 | 13 | 32379251 | intron variant | T/C | snv | 0.52 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
4 | 2 | 21065354 | intergenic variant | G/A | snv | 0.69 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
2 | 2 | 168974151 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
5 | 2 | 21021128 | intron variant | G/T | snv | 0.35 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
3 | 7 | 44544952 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
3 | 2 | 118078265 | intergenic variant | G/A | snv | 5.2E-02 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||||
|
4 | 1 | 25442446 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
2 | 1 | 92502755 | regulatory region variant | T/C | snv | 0.85 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
4 | 1 | 62583880 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
3 | 11 | 126378316 | intron variant | A/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2016 | 2018 |