Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 130209734 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.820 | 1.000 | 4 | 2007 | 2009 | ||||||||
|
11 | 130192806 | intron variant | G/A | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 11 | 130190674 | missense variant | G/A | snv | 2.2E-02 | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 11 | 130190674 | missense variant | G/A | snv | 2.2E-02 | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 11 | 130190674 | missense variant | G/A | snv | 2.2E-02 | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 11 | 130190674 | missense variant | G/A | snv | 2.2E-02 | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 11 | 130190674 | missense variant | G/A | snv | 2.2E-02 | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 11 | 130175205 | intron variant | G/A | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 130159982 | start lost | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 130208685 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 130208449 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 130210122 | 3 prime UTR variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 11 | 130210122 | 3 prime UTR variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 11 | 130196396 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |