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 | 14 | 93129246 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
1 | 6 | 96412478 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
1 | 1 | 156480948 | missense variant | G/A;C | snv | 0.62 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 1 | 156486509 | intron variant | -/T | delins | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1 | 10 | 33179196 | 3 prime UTR variant | A/G | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 1 | 156486509 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
2 | 11 | 10652497 | intron variant | C/G | snv | 0.78 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 18 | 9590436 | intron variant | G/C | snv | 0.36 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||||
|
1 | 3 | 30420911 | regulatory region variant | G/A;T | snv | 0.810 | 1.000 | 2 | 2012 | 2014 | |||||||
|
1 | 7 | 111688341 | intergenic variant | A/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 150856517 | missense variant | C/T | snv | 0.26 | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 9 | 29372503 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 3159033 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 15222140 | upstream gene variant | G/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 10 | 94254865 | intron variant | C/G | snv | 0.44 | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 2 | 132469969 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 4414290 | intergenic variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 18 | 57511578 | intergenic variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 102212877 | intron variant | T/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 130369801 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 30525891 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 10703511 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 56914476 | intergenic variant | T/A;C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 |