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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 3 | 122226991 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 3 | 122257647 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.080 | 3 | 122258079 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 3 | 122258435 | intron variant | G/T | snv | 0.30 | 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 | 122261437 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122271410 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
18 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
2 | 3 | 122274753 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.800 | 1.000 | 4 | 2010 | 2018 | |||
|
2 | 3 | 122289706 | 3 prime UTR variant | C/A | snv | 0.28 | 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 | 122292504 | downstream gene variant | G/A | snv | 0.28 | 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 | 122293879 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 3 | 122294507 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.080 | 3 | 122295719 | downstream gene variant | T/C | snv | 0.30 | 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 | ||||||
|
2 | 3 | 122298661 | regulatory region variant | C/G;T | snv | 0.19 | 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 | 122303570 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 3 | 122307242 | regulatory region variant | C/G | snv | 8.7E-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 | 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 |