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 | 1 | 109275216 | 3 prime UTR variant | T/C | snv | 0.75 | 0.800 | 1.000 | 8 | 2008 | 2019 | ||||||
|
5 | 7 | 25952206 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 6 | 2013 | 2019 | |||||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.800 | 1.000 | 5 | 2013 | 2019 | |||||||
|
7 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 0.800 | 1.000 | 5 | 2012 | 2018 | ||||||
|
6 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
3 | 6 | 16127176 | upstream gene variant | C/T | snv | 0.27 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
3 | 1 | 234722850 | upstream gene variant | A/T | snv | 0.62 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
3 | 17 | 47347749 | intron variant | G/A;T | snv | 0.47 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
3 | 14 | 24414681 | missense variant | G/A | snv | 0.37 | 0.34 | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||
|
4 | 8 | 54509054 | upstream gene variant | G/A | snv | 0.19 | 0.800 | 1.000 | 4 | 2013 | 2019 | ||||||
|
3 | 11 | 126374057 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 1 | 25449242 | intron variant | A/T | snv | 0.50 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 6 | 160157828 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 20 | 17865277 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 4 | 2013 | 2019 | |||||||
|
6 | 1 | 220796686 | missense variant | A/G | snv | 0.75 | 0.78 | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
3 | 1 | 220800221 | intron variant | C/T | snv | 0.73 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 20 | 41043978 | intron variant | T/A | snv | 0.58 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
4 | 1 | 109264661 | intron variant | A/C;T | snv | 4.0E-06; 0.10 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||||
|
3 | 8 | 58479765 | intergenic variant | G/A | snv | 0.75 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
3 | 5 | 75341886 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
4 | 1 | 62612551 | intron variant | A/T | snv | 0.32 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
3 | 8 | 143969375 | intron variant | A/G | snv | 0.40 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||||
|
2 | 19 | 11078223 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
5 | 10 | 112150963 | 3 prime UTR variant | A/G | snv | 0.71 | 0.700 | 1.000 | 3 | 2015 | 2018 |