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 | 1 | 21617327 | synonymous variant | G/A | snv | 0.32 | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1 | 21490592 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 4426615 | downstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 21496799 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 131765353 | TF binding site variant | G/A | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 3 | 122329797 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | X | 22032916 | 5 prime UTR variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 21573903 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 4497002 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 17 | 68685441 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 5 | 177379635 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 12010749 | intergenic variant | C/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 5 | 177370342 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 131728517 | intron variant | C/A | snv | 0.75 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 33737578 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 6 | 33738702 | intron variant | C/T | snv | 0.11 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 135812521 | non coding transcript exon variant | T/C | snv | 0.27 | 0.800 | 1.000 | 1 | 2010 | 2010 |