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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 12 | 10019754 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100198431 | regulatory region variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100228626 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100231859 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 10023280 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 100236725 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100240555 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100243160 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 100244133 | intron variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100245897 | intron variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100246441 | intron variant | C/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100248036 | intron variant | C/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 100254400 | downstream gene variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
13 | 1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 100341341 | upstream gene variant | C/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 100342730 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 11 | 100377590 | intergenic variant | C/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 100378042 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 100385044 | intergenic variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 100425381 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 100427640 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 10 | 101609797 | downstream gene variant | A/C | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 102348402 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 104503209 | upstream gene variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 104534885 | intron variant | C/G | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 |