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 | 5 | 75341886 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||||
|
4 | 1 | 62583880 | intron variant | A/C;G | snv | 0.800 | 1.000 | 4 | 2013 | 2019 | |||||||
|
3 | 11 | 126374057 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
3 | 6 | 160157828 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
6 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
4 | 19 | 19225799 | intron variant | C/T | snv | 9.4E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
5 | 10 | 112174128 | intron variant | A/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
4 | 10 | 112153464 | 3 prime UTR variant | T/C | snv | 0.69 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
7 | 9 | 104903458 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2018 | ||||||
|
2 | 6 | 34578783 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2018 | |||||||
|
3 | 6 | 16127176 | upstream gene variant | C/T | snv | 0.27 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
3 | 17 | 47347749 | intron variant | G/A;T | snv | 0.47 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||||
|
4 | 8 | 54509054 | upstream gene variant | G/A | snv | 0.19 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
2 | 11 | 18611437 | intron variant | T/C | snv | 0.64 | 0.55 | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
4 | 1 | 25442446 | intron variant | A/G | snv | 0.58 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||||
|
3 | 8 | 143969375 | intron variant | A/G | snv | 0.40 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||||
|
2 | 19 | 11078223 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
5 | 10 | 112150963 | 3 prime UTR variant | A/G | snv | 0.71 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
3 | 1 | 25449242 | intron variant | A/T | snv | 0.50 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||||
|
3 | 19 | 44919330 | 3 prime UTR variant | A/G | snv | 3.7E-02 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
9 | 1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 | 0.700 | 1.000 | 3 | 2016 | 2019 |