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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 6 | 25715429 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 6 | 27033276 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 134964503 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 133864120 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1 | 189052039 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 6 | 26248612 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 133738670 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 3 | 132157410 | intron variant | A/G | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 133330418 | intron variant | A/G | snv | 2.3E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 133150563 | intron variant | A/G | snv | 2.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 134820915 | intron variant | A/G | snv | 2.7E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 7 | 11345523 | intron variant | G/C | snv | 2.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 25296893 | intron variant | T/C | snv | 2.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 189188129 | intergenic variant | G/A | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 62178025 | regulatory region variant | A/G | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 36686538 | intergenic variant | A/G | snv | 4.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 132660153 | 5 prime UTR variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 132417596 | 5 prime UTR variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 197992314 | intron variant | C/T | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 6 | 25917997 | intron variant | T/C | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 2 | 2011 | 2017 | |||
|
2 | 6 | 27256809 | downstream gene variant | G/A | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 6 | 27154665 | regulatory region variant | A/G | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 45763401 | intergenic variant | G/A | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 45625172 | upstream gene variant | G/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 |