| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 1 | 77582646 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
2 | 1.000 | 0.120 | 15 | 66528912 | missense variant | A/G | snv | 0.23 | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 5 | 61426817 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 61436725 | intron variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 61438106 | intron variant | G/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 17 | 36498436 | missense variant | G/A | snv | 0.34 | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 16 | 31077304 | missense variant | A/G | snv | 0.40 | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 19 | 52488071 | intron variant | C/T | snv | 1.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 19 | 51835388 | intron variant | T/C | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 19 | 30454264 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 19 | 30537759 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 30528873 | intron variant | A/G | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 30427409 | intron variant | T/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 44721338 | missense variant | A/G | snv | 0.18 | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 9 | 94300699 | missense variant | C/T | snv | 0.12 | 7.9E-02 | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 20 | 18315432 | missense variant | G/A;C | snv | 9.4E-02; 2.4E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 18307521 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 20 | 18310335 | intron variant | A/G | snv | 0.21 | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 5 | 43152114 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 43110753 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 43124586 | non coding transcript exon variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 13 | 20042417 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 44749058 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |