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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 3 | 122294507 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 10 | 49244632 | intergenic variant | T/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 23301799 | downstream gene variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 15 | 50692447 | downstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 122307242 | regulatory region variant | C/G | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.925 | 0.080 | 3 | 122295719 | downstream gene variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 3 | 122292516 | downstream gene variant | C/A;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122292504 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 126532675 | downstream gene variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 122303570 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122293879 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122298661 | regulatory region variant | C/G;T | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 65806210 | downstream gene variant | C/T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 3 | 122313942 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122318950 | downstream gene variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 122320183 | downstream gene variant | G/A | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 122311615 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 20 | 54098167 | regulatory region variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 3 | 122298385 | TF binding site variant | A/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122321763 | 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 | 122321215 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 156807123 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 89702020 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 |