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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 30671823 | missense variant | G/A | snv | 1.4E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.240 | 3 | 30674231 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 30657290 | intron variant | G/A | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
3 | 30668751 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1.000 | 3 | 30693684 | 3 prime UTR variant | T/A | snv | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 30606915 | missense variant | C/T | snv | 9.2E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 30632373 | non coding transcript exon variant | C/T | snv | 7.2E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 30657290 | intron variant | G/A | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 3 | 30605668 | upstream gene variant | A/G;T | snv | 0.64 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 30686798 | intron variant | G/C | snv | 0.14 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 3 | 30686798 | intron variant | G/C | snv | 0.14 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.240 | 3 | 30674231 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 3 | 30672234 | missense variant | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 6 | 2005 | 2016 | |||||||||
|
1.000 | 0.040 | 3 | 30677040 | intron variant | A/G | snv | 3.9E-02 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.160 | 3 | 30674228 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.160 | 3 | 30671634 | splice region variant | T/A;C | snv | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.160 | 3 | 30691329 | intron variant | C/A | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 3 | 30691465 | missense variant | G/A;T | 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 | 30691437 | inframe deletion | ACGTTGACTGAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; 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 | 3 | 30605668 | upstream gene variant | A/G;T | snv | 0.64 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 3 | 30641447 | intron variant | G/C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2013 | 2014 |