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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 12 | 121004867 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||||
|
1 | 1 | 159744054 | regulatory region variant | C/T | snv | 0.17 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 1 | 159737200 | intergenic variant | T/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||||
|
3 | 1 | 159700355 | downstream gene variant | C/T | snv | 0.24 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 1 | 159689319 | intergenic variant | C/T | snv | 0.25 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
2 | 1 | 159700546 | downstream gene variant | C/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 1 | 159659404 | intergenic variant | A/G | snv | 0.44 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 1 | 159703795 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 1 | 159659263 | intergenic variant | T/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
2 | 12 | 120967323 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1 | 12 | 120986771 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||||
|
1 | 12 | 120997672 | missense variant | G/A | snv | 0.39 | 0.31 | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1 | 159308461 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 1 | 159655688 | intergenic variant | G/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
3 | 15 | 60585831 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
2 | 1 | 159248476 | regulatory region variant | A/C | snv | 0.57 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 1 | 159436169 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 1 | 159738257 | intergenic variant | C/T | snv | 0.61 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||||
|
1 | 1 | 65695778 | intergenic variant | T/C | snv | 0.58 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
2 | 1 | 91064748 | intergenic variant | C/T | snv | 0.19 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
8 | 9 | 133266942 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
1 | 1 | 159685728 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
1 | 12 | 121001041 | 3 prime UTR variant | T/C | snv | 0.39 | 0.31 | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 6 | 41160234 | intron variant | A/G | snv | 0.17 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 5 | 6937069 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |