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 | 62652525 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2009 | 2019 | |||||||
|
1 | 11 | 18611437 | intron variant | T/C | snv | 0.64 | 0.55 | 0.800 | 1.000 | 2 | 2010 | 2018 | |||||
|
3 | 8 | 143969375 | intron variant | A/G | snv | 0.40 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
3 | 11 | 126374057 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
5 | 2 | 233770738 | 3 prime UTR variant | C/T | snv | 0.19 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
3 | 1 | 25449242 | intron variant | A/T | snv | 0.50 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
3 | 6 | 160157828 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||||
|
5 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||||
|
3 | 10 | 112174128 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2019 | |||||||
|
1 | 20 | 35564866 | non coding transcript exon variant | C/T | snv | 0.18 | 0.17 | 0.800 | 1.000 | 2 | 2010 | 2018 | |||||
|
1 | 3 | 12587421 | non coding transcript exon variant | G/C | snv | 0.23 | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 1 | 220800221 | intron variant | C/T | snv | 0.73 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
1 | 6 | 34578783 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2018 | |||||||
|
4 | 11 | 116748357 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
3 | 20 | 40462847 | regulatory region variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
3 | 6 | 16127176 | upstream gene variant | C/T | snv | 0.27 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
3 | 1 | 234722850 | upstream gene variant | A/T | snv | 0.62 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
3 | 9 | 15305380 | intron variant | G/C | snv | 0.72 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||||
|
5 | 15 | 58438299 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
3 | 20 | 41043978 | intron variant | T/A | snv | 0.58 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
3 | 17 | 47347749 | intron variant | G/A;T | snv | 0.47 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
3 | 18 | 49634583 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2018 | |||||||
|
6 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
1 | 1 | 92543881 | intron variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2010 | 2018 | |||||||
|
3 | 11 | 122651667 | upstream gene variant | T/C | snv | 0.39 | 0.800 | 1.000 | 2 | 2010 | 2013 |