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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 3 | 122321215 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122301347 | regulatory region variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122370512 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122499004 | intron variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 11 | 3007859 | non coding transcript exon variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 13 | 41984940 | downstream gene variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 16 | 88457407 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 69318828 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 122321763 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122388388 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122369259 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122298385 | TF binding site variant | A/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 7 | 77879316 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.080 | 20 | 54098167 | regulatory region variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 3 | 122311615 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 4586857 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 122320183 | downstream gene variant | G/A | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 122318950 | downstream gene variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 122290328 | 3 prime UTR variant | A/G | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 122361900 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122409619 | intron variant | G/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122259226 | intron variant | G/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122274753 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 |