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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 12 | 88934558 | TF binding site variant | T/A;C;G | snv | 0.800 | 1.000 | 4 | 2007 | 2018 | |||||||
|
3 | 14 | 92307319 | intergenic variant | G/T | snv | 0.32 | 0.800 | 1.000 | 4 | 2007 | 2013 | ||||||
|
9 | 0.763 | 0.200 | 15 | 28120472 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 4 | 2008 | 2018 | ||||
|
23 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 0.800 | 1.000 | 3 | 2008 | 2013 | ||||
|
9 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||
|
16 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 0.800 | 1.000 | 3 | 2007 | 2018 | ||||
|
1 | 6 | 542159 | intron variant | A/G | snv | 0.47 | 0.800 | 1.000 | 2 | 2008 | 2018 | ||||||
|
3 | 15 | 28099092 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 2 | 2008 | 2015 | ||||||
|
1 | 9 | 124046509 | intergenic variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 0.925 | 0.080 | 20 | 34150806 | regulatory region variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 2 | 221186699 | intergenic variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 85680478 | intron variant | A/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 59266631 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 0.925 | 0.080 | 11 | 89178528 | missense variant | C/A | snv | 0.25 | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 11 | 69088127 | 3 prime UTR variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 5887074 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 9 | 124228906 | intergenic variant | T/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 63923312 | intron variant | G/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 62436393 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 131076476 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 16795288 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 7522288 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 112404471 | downstream gene variant | T/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 116529865 | upstream gene variant | A/C;T | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 16 | 89919722 | missense variant | T/C | snv | 5.6E-03 | 6.6E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 |