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 | 2 | 168927903 | intron variant | C/T | snv | 6.6E-02 | 0.700 | 1.000 | 3 | 2011 | 2019 | ||||||
|
14 | 8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||
|
2 | 2 | 44961214 | non coding transcript exon variant | C/T | snv | 0.23 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||||
|
2 | 11 | 47325172 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
2 | 13 | 27913462 | intron variant | A/G | snv | 0.23 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
1 | 2 | 168898336 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
3 | 2 | 26930006 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 7 | 44149675 | intron variant | T/C | snv | 0.18 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
4 | 3 | 123375604 | intron variant | T/C | snv | 0.76 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||
|
1 | 11 | 92935660 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
2 | 9 | 4290085 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||||
|
1 | 20 | 22600630 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
2 | 20 | 22576461 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
4 | 2 | 168944978 | intron variant | A/G;T | snv | 0.75 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
1 | 7 | 40304762 | intron variant | C/A;G | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 7 | 50683393 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 44180106 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 14882382 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 44205764 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 168878291 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 45824675 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 12 | 132465032 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 622523 | intron variant | G/T | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 121500382 | intron variant | C/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 47180373 | intron variant | G/A | snv | 0.38 | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 |