RAF1, Raf-1 proto-oncogene, serine/threonine kinase, 5894
N. diseases: 470; N. variants: 52
Source: ALL
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 | 3 | 12599805 | missense variant | G/C | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 3 | 12604189 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 3 | 12604189 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 12599717 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 3 | 12608823 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 3 | 12604204 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 3 | 12604182 | missense variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 3 | 12604182 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 3 | 12584539 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 3 | 12608895 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 3 | 12591729 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 3 | 12611985 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 3 | 12604201 | missense variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 3 | 12585794 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |