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 | 4 | 100647799 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 4 | 100649444 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 5 | 11047569 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 8 | 117750197 | intergenic variant | T/C | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 119121264 | intron variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 119125638 | intron variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 119132020 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 8 | 1203198 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 8 | 1203431 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 8 | 1203645 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 8 | 1206131 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 123047451 | upstream gene variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123055777 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 123057914 | synonymous variant | A/C;G | snv | 4.1E-06; 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123058167 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 123090950 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123093392 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 123094779 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 123095918 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
2 | 9 | 135121473 | downstream gene variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 135121519 | downstream gene variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 135121569 | downstream gene variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 135122706 | downstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 |