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rs1800470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T)
Make rs1800470(C;C)
Make rs1800470(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position41353016
GeneTGFB1
is asnp
is mentioned by
dbSNPrs1800470
ebirs1800470
HLIrs1800470
Exacrs1800470
Varsomers1800470
Maprs1800470
PheGenIrs1800470
hapmaprs1800470
1000 genomesrs1800470
hgdprs1800470
ensemblrs1800470
gopubmedrs1800470
geneviewrs1800470
scholarrs1800470
googlers1800470
pharmgkbrs1800470
gwascentralrs1800470
openSNPrs1800470
23andMers1800470
23andMe allrs1800470
SNP Nexus

SNPshotrs1800470
SNPdbers1800470
MSV3drs1800470
GWAS Ctlgrs1800470
Merged fromRs1982073
GMAF0.4444
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
TGFB1-P10L
aa_change Pro10Leu
aa_change_short P10L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.647706
summary



[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

ClinVar
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
Gene TGFB1 TMEM91
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.