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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.120 | 15 | 76001630 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 15 | 76006403 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 22 | 37113139 | upstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 22 | 37113146 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 1 | 231335026 | 3 prime UTR variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 49548304 | downstream gene variant | -/GGTT | delins | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 66651883 | intron variant | -/A | ins | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 46066687 | intron variant | C/T | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 6 | 2050557 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 2 | 53010182 | intergenic variant | G/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 6 | 31174193 | intron variant | C/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 2 | 121238062 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 58471084 | TF binding site variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 4 | 69020433 | upstream gene variant | A/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.120 | 5 | 457146 | non coding transcript exon variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 7 | 134684558 | intron variant | A/G | snv | 1.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 100701281 | upstream gene variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 3768390 | intron variant | C/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.120 | 12 | 121016819 | upstream gene variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 22 | 37113047 | upstream gene variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 6 | 109313625 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 198626376 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 8 | 94922936 | intron variant | C/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 14 | 64236875 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 19 | 2165843 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |