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 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 30691504 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
0.851 | 0.160 | 3 | 30674228 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 30672189 | missense variant | T/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 30672246 | missense variant | G/A;C;T | snv | 8.2E-06; 8.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||||
|
1.000 | 0.120 | 3 | 30672252 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
0.851 | 0.240 | 3 | 30691478 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 30674229 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||||
|
1.000 | 0.120 | 3 | 30672106 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 30672313 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 10 | 2004 | 2012 | ||||||||
|
0.851 | 0.160 | 3 | 30674228 | missense variant | C/T | snv |
|
0.700 | 1.000 | 9 | 2005 | 2016 | |||||||||
|
0.851 | 0.240 | 3 | 30691478 | missense variant | G/A | snv |
|
0.700 | 1.000 | 7 | 2005 | 2014 | |||||||||
|
0.882 | 0.120 | 3 | 30674186 | missense variant | G/A | snv |
|
0.700 | 1.000 | 7 | 2006 | 2014 | |||||||||
|
0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases | 0.710 | 1.000 | 6 | 2005 | 2013 | ||||||||
|
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 | 1.000 | 6 | 2006 | 2016 | ||||||||
|
1.000 | 3 | 30672234 | missense variant | G/C | snv |
|
0.700 | 1.000 | 6 | 2005 | 2016 | ||||||||||
|
1.000 | 3 | 30672234 | missense variant | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 6 | 2005 | 2016 | |||||||||
|
0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 5 | 2004 | 2012 | |||||||||
|
0.882 | 0.120 | 3 | 30688476 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2004 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 30691504 | missense variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2004 | 2011 | |||||||||
|
0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2005 | 2012 | |||||||||
|
0.882 | 0.120 | 3 | 30674229 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2005 | 2011 | ||||||||
|
0.882 | 0.080 | 3 | 30641447 | intron variant | G/C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
1.000 | 3 | 30688383 | splice acceptor variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2006 | 2010 |