TGFBR3 c.384+2716T>A

Variant ID: 1-92221454-A-T

NM_003243.4(TGFBR3):c.384+2716T>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Transforming Growth Factor Beta Receptor 3 Haplotypes in Sickle Cell Disease Are Associated with Lipid Profile and Clinical Manifestations.

Mediators Of Inflammation
Santiago, Rayra P RP; Figueiredo, Camylla V B CVB; Fiuza, Luciana M LM; Yahouédéhou, Sètondji C M A SCMA; Oliveira, Rodrigo M RM; Aleluia, Milena M MM; Carvalho, Suellen P SP; Fonseca, Cleverson A CA; Nascimento, Valma M L VML; Rocha, Larissa C LC; Guarda, Caroline C CC; Gonçalves, Marilda S MS
Publication Date: 2020

Variant appearance in text: rs7526590
PubMed Link: 33149723
Variant Present in the following documents:
  • Main text
  • MI2020-3185015.pdf
View BVdb publication page



TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia.

Disease Markers
Santiago, Rayra Pereira RP; Figueiredo, Camylla Vilas Boas CVB; Fiuza, Luciana Magalhães LM; Yahouédéhou, Sétondji Cocou Modeste Alexandre SCMA; Oliveira, Rodrigo Mota RM; Aleluia, Milena Magalhães MM; Carvalho, Suellen Pinheiro SP; Fonseca, Cleverson Alves CA; Nascimento, Valma Maria Lopes VML; Rocha, Larissa Carneiro LC; Guarda, Caroline Conceição CC; Gonçalves, Marilda Souza MS
Publication Date: 2020

Variant appearance in text: rs7526590
PubMed Link: 33062074
Variant Present in the following documents:
  • Main text
  • DM2020-8867986.pdf
View BVdb publication page



Subcutaneous fat mass is associated with genetic risk scores related to proinflammatory cytokine signaling and interact with physical activity in middle-aged obese adults.

Nutrition & Metabolism
Daily, James W JW; Yang, Hye Jeong HJ; Liu, Meiling M; Kim, Min Jung MJ; Park, Sunmin S
Publication Date: 2019

Variant appearance in text: rs7526590
PubMed Link: 31719833
Variant Present in the following documents:
  • Main text
  • 12986_2019_Article_405.pdf
View BVdb publication page



The search for genetic modifiers of disease severity in the β-hemoglobinopathies.

Cold Spring Harbor Perspectives In Medicine
Lettre, Guillaume G
Publication Date: 2012-10-01

Variant appearance in text: rs7526590
PubMed Link: 23028136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs7526590
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
  • gei-2-2009-023.pdf
View BVdb publication page



Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease.

Blood
Ashley-Koch, Allison E AE; Elliott, Laine L; Kail, Melanie E ME; De Castro, Laura M LM; Jonassaint, Jude J; Jackson, Terry L TL; Price, Jennifer J; Ataga, Kenneth I KI; Levesque, Marc C MC; Weinberg, J Brice JB; Orringer, Eugene P EP; Collins, Ann A; Vance, Jeffery M JM; Telen, Marilyn J MJ
Publication Date: 2008-06-15

Variant appearance in text: rs7526590
PubMed Link: 18187665
Variant Present in the following documents:
  • Main text
View BVdb publication page