SMAD4 c.-127-5019G>A

Variant ID: 18-48568271-G-A

NM_005359.5(SMAD4):c.-127-5019G>A

This variant was identified in 13 publications

View GRCh38 version.




Publications:


SMAD4 rs10502913 is Significantly Associated with Chronic Obstructive Pulmonary Disease in a Chinese Han Population: A Case-Control Study.

International Journal Of Chronic Obstructive Pulmonary Disease
Hou, Zhifei Z; Yuan, Zhihui Z; Wang, Hao H; Chang, Kang K; Gao, Yong Y
Publication Date: 2022

Variant appearance in text: rs10502913
PubMed Link: 35898699
Variant Present in the following documents:
  • Main text
  • copd-17-1623.pdf
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Associations of SMAD4 rs10502913 and NLRP3 rs1539019 Polymorphisms with Risk of Coal Workers' Pneumoconiosis Susceptibility in Chinese Han Population.

Pharmacogenomics And Personalized Medicine
Zhao, Hai H; Huang, Yaqiong Y; Wang, Hao H; Zhao, Juan J; Tian, Shanshan S; Bai, Haixia H; Guo, Mufang M; Dong, Caiping C; Shi, Yongliang Y; Li, Xia X; Zhu, Chengjun C; Feng, Tao T; Ma, Xia X; Hou, Zhifei Z
Publication Date: 2022

Variant appearance in text: rs10502913
PubMed Link: 35280939
Variant Present in the following documents:
  • Main text
  • pgpm-15-167.pdf
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Assessment of the Role of Selected SMAD3 and SMAD4 Genes Polymorphisms in the Development of Colorectal Cancer: Preliminary Research.

Pharmacogenomics And Personalized Medicine
Wosiak, Agnieszka A; Wodziński, Damian D; Michalska, Katarzyna K; Pietrzak, Jacek J; Kordek, Radzisław R; Balcerczak, Ewa E
Publication Date: 2021

Variant appearance in text: rs10502913
PubMed Link: 33542644
Variant Present in the following documents:
  • Main text
  • pgpm-14-167.pdf
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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Orphanet Journal Of Rare Diseases
Giraud, Sophie S; Bardel, Claire C; Dupuis-Girod, Sophie S; Carette, Marie-France MF; Gilbert-Dussardier, Brigitte B; Riviere, Sophie S; Saurin, Jean-Christophe JC; Eyries, Mélanie M; Patri, Sylvie S; Decullier, Evelyne E; Calender, Alain A; Lesca, Gaëtan G
Publication Date: 2020-09-22

Variant appearance in text: rs10502913
PubMed Link: 32962750
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1533.pdf
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Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology.

Frontiers In Genetics
Giese, Arnaud P J APJ; Ali, Saadat S; Isaiah, Amal A; Aziz, Ishrat I; Riazuddin, Saima S; Ahmed, Zubair M ZM
Publication Date: 2020

Variant appearance in text: rs10502913
PubMed Link: 32391049
Variant Present in the following documents:
  • Main text
  • fgene-11-00313.pdf
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Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.

Frontiers In Genetics
Pasquale, Louis R LR; Loomis, Stephanie J SJ; Aschard, Hugues H; Kang, Jae H JH; Cornelis, Marilyn C MC; Qi, Lu L; Kraft, Peter P; Hu, Frank B FB
Publication Date: 2013

Variant appearance in text: rs10502913
PubMed Link: 23386860
Variant Present in the following documents:
  • Main text
View BVdb publication page



SNPs in the TGF-β signaling pathway are associated with increased risk of brain metastasis in patients with non-small-cell lung cancer.

Plos One
Li, Qianxia Q; Wu, Huanlei H; Chen, Bei B; Hu, Guangyuan G; Huang, Liu L; Qin, Kai K; Chen, Yu Y; Yuan, Xianglin X; Liao, Zhongxing Z
Publication Date: 2012

Variant appearance in text: rs10502913
PubMed Link: 23284751
Variant Present in the following documents:
  • Main text
  • pone.0051713.pdf
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We are what we breathe!

Indian Journal Of Occupational And Environmental Medicine
Gude, Dilip D
Publication Date: 2011-05

Variant appearance in text: rs10502913
PubMed Link: 22223956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in the SMAD4 gene and gastric cancer susceptibility.

World Journal Of Gastroenterology
Wu, Dong-Mei DM; Zhu, Hai-Xia HX; Zhao, Qing-Hong QH; Zhang, Zhi-Zhong ZZ; Wang, Shi-Zhi SZ; Wang, Mei-Lin ML; Gong, Wei-Da WD; Tan, Ming M; Zhang, Zheng-Dong ZD
Publication Date: 2010-11-28

Variant appearance in text: rs10502913
PubMed Link: 21105199
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between genetic variation in RUNX1, RUNX2, RUNX3, MAPK1 and eIF4E and riskof colon and rectal cancer: additional support for a TGF-β-signaling pathway.

Carcinogenesis
Slattery, Martha L ML; Lundgreen, Abbie A; Herrick, Jennifer S JS; Caan, Bette J BJ; Potter, John D JD; Wolff, Roger K RK
Publication Date: 2011-03

Variant appearance in text: rs10502913
PubMed Link: 21088106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the TGF-β signaling pathway and colon and rectal cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Slattery, Martha L ML; Herrick, Jennifer S JS; Lundgreen, Abbie A; Wolff, Roger K RK
Publication Date: 2011-01

Variant appearance in text: rs10502913
PubMed Link: 21068203
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

American Journal Of Human Genetics
Milet, Jacqueline J; Dehais, Valerie V; Bourgain, Catherine C; Jouanolle, Anne Marie AM; Mosser, Annick A; Perrin, Michele M; Morcet, Jeff J; Brissot, Pierre P; David, Veronique V; Deugnier, Yves Y; Mosser, Jean J
Publication Date: 2007-10

Variant appearance in text: rs10502913
PubMed Link: 17847004
Variant Present in the following documents:
  • Main text
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Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.

American Journal Of Human Genetics
Greenberg, David A DA; Cayanis, Eftihia E; Strug, Lisa L; Marathe, Sudhir S; Durner, Martina M; Pal, Deb K DK; Alvin, Gabriele B GB; Klotz, Irene I; Dicker, Elisa E; Shinnar, Shlomo S; Bromfield, Edward B EB; Resor, Stanley S; Cohen, Jeffrey J; Moshe, Solomon L SL; Harden, Cynthia C; Kang, Harriet H
Publication Date: 2005-01

Variant appearance in text: rs10502913
PubMed Link: 15532013
Variant Present in the following documents:
  • Main text
View BVdb publication page