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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 6 | 43340625 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
2 | 4 | 85798012 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||||
|
6 | 1 | 10736490 | intron variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
5 | 2 | 26697157 | intron variant | T/A | snv | 0.48 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
5 | 10 | 18418519 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
6 | 20 | 10985350 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 4 | 85794517 | intron variant | T/C | snv | 0.84 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||||
|
2 | 7 | 27203602 | intron variant | C/T | snv | 0.90 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
4 | 6 | 43302413 | splice region variant | C/T | snv | 0.37 | 0.43 | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
4 | 1 | 112673921 | intron variant | A/C;G | snv | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||||
|
5 | 12 | 115115073 | intergenic variant | G/C | snv | 0.40 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
5 | 1 | 112504257 | intron variant | C/A | snv | 7.8E-02 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
3 | 3 | 53523985 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 4 | 88831125 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
4 | 20 | 44166512 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
5 | 20 | 10986566 | intron variant | T/G | snv | 0.46 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
2 | 5 | 128532506 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
5 | 11 | 1884062 | intron variant | T/C | snv | 0.43 | 0.37 | 0.700 | 1.000 | 3 | 2017 | 2018 | |||||
|
4 | 12 | 50144032 | missense variant | A/G;T | snv | 0.69 | 0.71 | 0.700 | 1.000 | 3 | 2016 | 2017 | |||||
|
4 | 6 | 133759717 | intron variant | C/T | snv | 2.9E-02 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
2 | 13 | 112981842 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 18 | 56911251 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
2 | 5 | 115054424 | regulatory region variant | C/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 16 | 74138074 | intron variant | C/G;T | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 |