TGFBR2, transforming growth factor beta receptor 2, 7048
N. diseases: 502; N. variants: 76
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 3 | 30674196 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 3 | 30691504 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 3 | 30691478 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 3 | 30674123 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 3 | 30674130 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 3 | 30691426 | stop gained | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 3 | 30688511 | splice region variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 3 | 30674109 | missense variant | G/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 30688433 | frameshift variant | CT/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 3 | 30672334 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 30691435 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 30691435 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 3 | 30650316 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
3 | 30672342 | missense variant | G/A;T | snv | 1.0E-03; 3.5E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 3 | 30691490 | frameshift variant | -/TG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 3 | 30688382 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 3 | 30688512 | splice donor variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 3 | 30688512 | splice donor variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 3 | 30688512 | splice donor variant | G/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 30691486 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 30691486 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 3 | 30672250 | missense variant | G/A;C | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 |