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 | 19188685 | intergenic variant | T/C | snv | 7.7E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 5 | 2010 | 2018 | |||
|
1 | 7 | 73626484 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
1 | 9 | 109468618 | intron variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 31345371 | intron variant | A/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 4 | 176486024 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 19 | 35062437 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 72940941 | intergenic variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 19 | 49509317 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.160 | 17 | 16939677 | missense variant | G/A | snv | 0.14 | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 4 | 3419582 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 14 | 94587675 | missense variant | A/G | snv | 0.14 | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 17 | 1743357 | intron variant | A/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 22702437 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 4 | 78698045 | intergenic variant | C/A | snv | 5.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 13121889 | intron variant | C/T | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 122899034 | intergenic variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 74768072 | intergenic variant | G/A | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 1.000 | 0.040 | 4 | 186236880 | missense variant | G/A;C | snv | 0.54 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
18 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1 | 151910380 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 11 | 124669377 | missense variant | T/C | snv | 3.1E-02 | 7.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 11 | 67653870 | upstream gene variant | T/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 1.000 | 0.080 | 2 | 73641201 | missense variant | A/G | snv | 0.21 | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 |