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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 40307477 | missense variant | TG/CA | mnv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.160 | 1 | 102888618 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.120 | 12 | 56342206 | 3 prime UTR variant | G/T | snv | 4.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
20 | 0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1 | 40307477 | missense variant | T/A;C;G | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 40307477 | frameshift variant | TG/A;C | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.120 | 3 | 172505900 | 3 prime UTR variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 3 | 172505830 | 3 prime UTR variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.120 | 16 | 46884785 | stop gained | C/T | snv | 7.2E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.280 | 20 | 62819980 | missense variant | C/T | snv | 4.7E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.120 | 6 | 169229688 | intron variant | G/A | snv | 0.61 | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.120 | 6 | 169229815 | intron variant | G/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
30 | 0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 |