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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 11 | 125309957 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1 | 204858913 | intron variant | C/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105819909 | intron variant | G/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105826655 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 13 | 47324744 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105822725 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105822480 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 105841192 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105828825 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 2 | 105840835 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105839093 | intron variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105820800 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105823603 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105815399 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 105817021 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 105837629 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 3 | 20135980 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 39545812 | non coding transcript exon variant | T/C | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |