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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
3 | 11 | 126378316 | intron variant | A/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
7 | 8 | 125494452 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
2 | 6 | 32490183 | intergenic variant | A/G | snv | 6.1E-05 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
4 | 11 | 116780399 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
2 | 16 | 72018449 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
6 | 1.000 | 0.040 | 1 | 62584148 | 3 prime UTR variant | G/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
5 | 1.000 | 0.080 | 6 | 160122116 | missense variant | C/T | snv | 5.2E-02 | 4.9E-02 | 0.700 | 1.000 | 2 | 2015 | 2018 | |||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 19 | 58159900 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
4 | 4 | 102276925 | intron variant | A/G | snv | 5.1E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 8 | 58440975 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
5 | 2 | 20994618 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
2 | 5 | 75306874 | intergenic variant | C/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
2 | 18 | 49579658 | intron variant | C/T | snv | 5.6E-03 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
5 | 1.000 | 0.040 | 5 | 156971158 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
3 | 5 | 157052312 | intron variant | G/A;C | snv | 6.2E-03; 0.67 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
4 | 15 | 58379566 | intron variant | G/T | snv | 0.60 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 3 | 12408594 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
11 | 0.882 | 0.080 | 16 | 56954132 | intergenic variant | C/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
6 | 11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
14 | 0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | |||
|
2 | 1 | 220801995 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
3 | 1 | 55119171 | intron variant | G/A | snv | 6.4E-03 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
5 | 10 | 93079885 | downstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2018 | 2018 |