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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 7 | 2011 | 2019 | |||||||
|
14 | 8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 | 0.700 | 1.000 | 6 | 2015 | 2019 | ||||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 6 | 2010 | 2019 | |||||||
|
5 | 15 | 58431280 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 5 | 2010 | 2019 | ||||||
|
2 | 16 | 67894139 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
5 | 15 | 58434545 | intron variant | G/C | snv | 0.73 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
5 | 1 | 39562508 | non coding transcript exon variant | A/C;G | snv | 0.800 | 1.000 | 5 | 2010 | 2018 | |||||||
|
3 | 12 | 123311691 | intron variant | C/T | snv | 7.8E-02 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
3 | 9 | 15305380 | intron variant | G/C | snv | 0.72 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
4 | 2 | 164684290 | 3 prime UTR variant | T/C | snv | 0.13 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 22 | 21577779 | intron variant | C/T | snv | 0.31 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
2 | 19 | 8366697 | intron variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||||
|
2 | 8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
7 | 9 | 104903458 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
2 | 11 | 46721697 | intron variant | T/C | snv | 0.13 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
4 | 8 | 19961928 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
2 | 19 | 54288907 | intergenic variant | C/A;G | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
6 | 17 | 78407903 | intron variant | G/A | snv | 0.46 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 12 | 123975620 | intron variant | G/T | snv | 0.33 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
6 | 6 | 139508529 | intron variant | C/T | snv | 0.53 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
4 | 5 | 54002195 | intron variant | G/A | snv | 0.27 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
3 | 18 | 49634583 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
5 | 15 | 58432593 | intron variant | T/A | snv | 0.33 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||||
|
3 | 12 | 124777047 | 3 prime UTR variant | C/T | snv | 0.55 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
2 | 12 | 124853983 | intron variant | C/T | snv | 0.63 | 0.800 | 1.000 | 3 | 2012 | 2019 |