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Geno Mag Summary
Make rs1800470(C;C)
Make rs1800470(T;T)
ReferenceGRCh38 38.1/142
is asnp
is mentioned by
1000 genomesrs1800470
23andMe allrs1800470
SNP Nexus

GWAS Ctlgrs1800470
Merged fromRs1982073
Max Magnitude
? (C;C) (C;T) (T;T) 28
Formerly known as the very well studied rs1982073

[PMID 19365037] TGFB1 as a susceptibility gene for high myopia: a replication study with new findings

[PMID 20233420OA-icon.png] Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation

[PMID 22066986] Association of 29C>T polymorphism in the transforming growth factor-?1 gene with lean body mass in community-dwelling Japanese population

[PMID 22282866] The Effects of Functional Polymorphisms in the TGF?1 Gene on Nasopharyngeal Carcinoma Susceptibility

[PMID 22513132OA-icon.png] Interaction between smoking and functional polymorphism in the TGFB1 gene is associated with ischaemic heart disease and myocardial infarction in patients with rheumatoid arthritis: a cross-sectional study

[PMID 22667340] Transforming growth factor beta 1 genotype and p16 as prognostic factors in head and neck squamous cell carcinoma

[PMID 15113441OA-icon.png] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

[PMID 15175276] The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD).

[PMID 16543493] Association of transforming growth factor-beta1 gene polymorphisms with myocardial infarction in patients with angiographically proven coronary heart disease.

[PMID 16704031] Lack of association between COPD and transforming growth factor-beta1 (TGFB1) genetic polymorphisms in Koreans.

[PMID 16780585OA-icon.png] Decorin and TGF-beta1 polymorphisms and development of COPD in a general population.

[PMID 17054776OA-icon.png] The genetics of chronic obstructive pulmonary disease.

[PMID 17059371] Large-scale population-based study shows no association between common polymorphisms of the TGFB1 gene and BMD in women.

[PMID 17319955OA-icon.png] Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

[PMID 17367212OA-icon.png] Association between common variation in 120 candidate genes and breast cancer risk.

[PMID 17673695OA-icon.png] Transforming growth factor- 1 C-509T polymorphism, oxidant stress, and early-onset childhood asthma.

[PMID 17940599OA-icon.png] Assembly of inflammation-related genes for pathway-focused genetic analysis.

[PMID 18041006] Association of TGF-beta1 codon 25 (G915C) polymorphism with hepatitis C virus infection.

[PMID 18284942] Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study.

[PMID 18292811OA-icon.png] Complex two-gene modulation of lung disease severity in children with cystic fibrosis.

[PMID 18424453OA-icon.png] Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.

[PMID 18431743OA-icon.png] Consortium analysis of 7 candidate SNPs for ovarian cancer.

[PMID 18640487OA-icon.png] Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation.

[PMID 18670143] The association of transforming growth factor beta 1 gene polymorphisms with the emphysema phenotype of COPD in Japanese.

[PMID 18676870OA-icon.png] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.

[PMID 18685869] TGF-beta1 gene polymorphisms and primary vesicoureteral reflux in childhood.

[PMID 18687755OA-icon.png] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 19004027] TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosis.

[PMID 19060265] High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes.

[PMID 19096005OA-icon.png] Variants in TGFB1, dust mite exposure, and disease severity in children with asthma.

[PMID 19106168] Transforming growth factor-beta1 869T/C, but not interleukin-6 -174G/C, polymorphism associates with hypertension in rheumatoid arthritis.

[PMID 19107437] Genetic polymorphisms in the transforming growth factor-beta signaling pathways and breast cancer risk and survival.

[PMID 19258388OA-icon.png] Genetic variation in the transforming growth factor-beta1 gene is associated with susceptibility to IgA nephropathy.

[PMID 19260117] Association between transforming growth factor beta1 genetic polymorphism and response to chemoradiotherapy in head and neck squamous cell cancer.

[PMID 19357773OA-icon.png] Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians.

[PMID 19380441OA-icon.png] Single nucleotide polymorphism at rs1982073:T869C of the TGFbeta 1 gene is associated with the risk of radiation pneumonitis in patients with non-small-cell lung cancer treated with definitive radiotherapy.

[PMID 19566948OA-icon.png] Polymorphisms of TGFB1 and VEGF genes and survival of patients with gastric cancer.

[PMID 19567509OA-icon.png] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.

[PMID 19710942OA-icon.png] Sclera-related gene polymorphisms in high myopia.

[PMID 19745160] Trend tests for genetic association using population-based cross-sectional complex survey data.

[PMID 19835575OA-icon.png] The VEGF -634G>C promoter polymorphism is associated with risk of gastric cancer.

[PMID 19933216OA-icon.png] The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.

[PMID 20096948OA-icon.png] No association between SNPs regulating TGF-beta1 secretion and late radiotherapy toxicity to the breast: results from the RAPPER study.

[PMID 20308003] TGFbeta1 genetic polymorphism is associated with survival in head and neck squamous cell carcinoma independent of the severity of chemoradiotherapy induced mucositis.

[PMID 20332227OA-icon.png] Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility.

[PMID 20334523] Association between normal tissue complications after radiotherapy and polymorphic variations in TGFB1 and XRCC1 genes.

[PMID 20479942OA-icon.png] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.

[PMID 20605201OA-icon.png] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.

[PMID 20640597] Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China.

[PMID 21320324OA-icon.png] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.

[PMID 21527583OA-icon.png] TGF-beta signaling pathway and breast cancer susceptibility.

[PMID 21556788] Lack of association between the TGF-beta(1) gene and development of COPD in Asians: a case-control study and meta-analysis.

[PMID 21596841OA-icon.png] Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.

[PMID 22066665] Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system.

[PMID 22322241] PRKCB is associated with calcineurin inhibitor-induced renal dysfunction in heart transplant recipients.

[PMID 22385796] TGFbeta1 SNPs and radio-induced toxicity in prostate cancer patients.

[PMID 22532573OA-icon.png] The role of genetic breast cancer susceptibility variants as prognostic factors.

GET Evidence
aa_change Pro10Leu
aa_change_short P10L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.647706

[PMID 22931704] The haplotype of the TGFβ1 gene associated with cerebral infarction in Chinese

[PMID 22662243OA-icon.png] Meta-analysis of the association between transforming growth factor-beta polymorphisms and complications of coronary heart disease

[PMID 23734748OA-icon.png] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes

Risk rs1800470(G,T;G,T)
Alt rs1800470(G,T;G,T)
Reference rs1800470(C;C)
Significance Other
Disease Cystic fibrosis Breast cancer Diaphyseal dysplasia
Variation info
CLNDBN Cystic fibrosis Breast cancer, invasive, susceptibility to Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.9:g.41858921G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013360.26, RCV000013361.3, RCV000032141.1,

[PMID 24060592] The TGF-B1 and IL-10 gene polymorphisms are associated with risk of developing silent myocardial ischemia in the diabetic patients

[PMID 23051628] Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis

[PMID 24142982OA-icon.png] Genes involved in innate immunity associated with asbestos-related fibrotic changes

[PMID 23416372] Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss

[PMID 21833528] Susceptibility to ankylosing spondylitis: evidence for the role of ERAP1, TGFb1 and TLR9 gene polymorphisms.

[PMID 22579472] The IL6 gene polymorphism -634C>G and IL17F gene polymorphism 7488T>C influence bone mineral density in young and elderly Japanese women.

[PMID 22659181] Analysis of TGFB1 in European and Japanese Moyamoya disease patients.

[PMID 22724518] Transforming growth factor beta1-509C/T and +869T/C polymorphisms on the risk of upper digestive tract cancer: a meta-analysis based on 10,917 participants.

[PMID 22825972] The association of TGF-beta1 codon 10 polymorphism with suicide behavior.

[PMID 23029430OA-icon.png] Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma.

[PMID 23059779] A study of ethnic differences in TGFbeta1 gene polymorphisms and effects on the risk of radiation pneumonitis in non-small-cell lung cancer.

[PMID 23325483] Contribution of TGFbeta1 codon 10 polymorphism to high myopia in an ethnic Kashmiri population from India.

[PMID 23352795] Association of TGF-beta1 -509 C/T, 29 C/T and 788 C/T gene polymorphisms with chronic periodontitis: a case-control study.

[PMID 23438931OA-icon.png] Relationships between selected gene polymorphisms and blood pressure sensitivity to weight loss in elderly persons with hypertension.

[PMID 25073350] [Genetic aspects of occupational chronic obstructive lung disease under exposure to various risk factors]

[PMID 24825461OA-icon.png] Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes

[PMID 25603974] Association of TGFB1 29C/T and IL6 -572G/C polymorphisms with developmental hip dysplasia: a case-control study in adults with severe osteoarthritis

[PMID 26544732] Transforming growth factor-β1 polymorphisms and graft-versus-host disease risk: a meta-analysis

[PMID 26629166OA-icon.png] Single-nucleotide polymorphisms of TGFβ1 and ATM associated with radiation-induced pneumonitis: a prospective cohort study of thoracic cancer patients in China.