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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 19 | 11416089 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
4 | 4 | 80236549 | regulatory region variant | T/C | snv | 0.27 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
4 | 7 | 27119517 | splice region variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
4 | 12 | 50144032 | missense variant | A/G;T | snv | 0.69 | 0.71 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
3 | 3 | 27507409 | regulatory region variant | A/G | snv | 0.30 | 0.710 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 4 | 110409934 | intron variant | T/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 33204354 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 132431666 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 8 | 55901862 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 27288591 | intergenic variant | A/G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 83065441 | intergenic variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 83066256 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 112646431 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 1 | 112501706 | intron variant | G/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 45537190 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
4 | 6 | 43312975 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 94538497 | intergenic variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 12 | 115760536 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 12 | 89675499 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 89680664 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 10 | 103179458 | intron variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 11 | 58439730 | missense variant | C/G;T | snv | 0.21 | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 11 | 61510226 | 3 prime UTR variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 10 | 103199143 | intergenic variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |