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 | 8 | 142741199 | missense variant | C/G;T | snv | 4.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.820 | 1.000 | 2 | 2007 | 2011 | |||||||
|
1.000 | 0.080 | 8 | 142742343 | missense variant | A/G | snv | 8.0E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 11 | 2001 | 2015 | ||||||
|
1.000 | 0.080 | 8 | 142741159 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 10 | 2001 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 142741226 | missense variant | A/G | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 9 | 2001 | 2015 | |||||||
|
1.000 | 0.080 | 8 | 142741243 | missense variant | C/T | snv | 8.4E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 9 | 2001 | 2015 | ||||||
|
1.000 | 0.080 | 8 | 142741175 | missense variant | A/T | snv | 8.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 9 | 2001 | 2015 | |||||||
|
1.000 | 0.080 | 8 | 142741899 | frameshift variant | A/- | del | 3.2E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2001 | 2018 | ||||||
|
1.000 | 0.080 | 8 | 142741211 | missense variant | G/A;T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 8 | 142741169 | stop gained | G/A;C | snv | 1.2E-05; 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 8 | 142742385 | start lost | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 142741802 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 |