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 | 11 | 61779765 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
2 | 11 | 61872907 | downstream gene variant | G/A | snv | 0.54 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
3 | 11 | 61784455 | non coding transcript exon variant | A/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
4 | 11 | 61812288 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
2 | 11 | 61860409 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 15 | 58264863 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
5 | 19 | 49496752 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 2 | 210195326 | missense variant | T/G | snv | 0.30 | 0.27 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
2 | 11 | 61837310 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
5 | 15 | 58434545 | intron variant | G/C | snv | 0.73 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
5 | 15 | 58438954 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
2 | 11 | 61835765 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
2 | 11 | 61835886 | intron variant | A/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 7 | 73626484 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
1 | 10 | 98397096 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
2 | 4 | 78667891 | intron variant | C/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 36728588 | intergenic variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 88304019 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 88298493 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 111388386 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62498066 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 143507813 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 62471241 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 81757012 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 23385810 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 |