rs1800470
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) |
| Make rs1800470(C;C) |
| Make rs1800470(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 41353016 |
| Gene | TGFB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800470 |
| dbSNP (classic) | rs1800470 |
| ClinGen | rs1800470 |
| ebi | rs1800470 |
| HLI | rs1800470 |
| Exac | rs1800470 |
| Gnomad | rs1800470 |
| Varsome | rs1800470 |
| LitVar | rs1800470 |
| Map | rs1800470 |
| PheGenI | rs1800470 |
| Biobank | rs1800470 |
| 1000 genomes | rs1800470 |
| hgdp | rs1800470 |
| ensembl | rs1800470 |
| geneview | rs1800470 |
| scholar | rs1800470 |
| rs1800470 | |
| pharmgkb | rs1800470 |
| gwascentral | rs1800470 |
| openSNP | rs1800470 |
| 23andMe | rs1800470 |
| SNPshot | rs1800470 |
| SNPdbe | rs1800470 |
| MSV3d | rs1800470 |
| GWAS Ctlg | rs1800470 |
| Merged from | Rs1982073 |
| GMAF | 0.4444 |
| Max Magnitude | 0 |
| ? | (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 20233420
] 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 22513132] 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 15113441] 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 16780585] Decorin and TGF-beta1 polymorphisms and development of COPD in a general population.
[PMID 17054776] 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 17319955] 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 17367212] Association between common variation in 120 candidate genes and breast cancer risk.
[PMID 17673695] Transforming growth factor- 1 C-509T polymorphism, oxidant stress, and early-onset childhood asthma.
[PMID 17940599] 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 18292811] Complex two-gene modulation of lung disease severity in children with cystic fibrosis.
[PMID 18424453] Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
[PMID 18431743] Consortium analysis of 7 candidate SNPs for ovarian cancer.
[PMID 18640487] 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 18676870] 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 18687755] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.
[PMID 18936436] 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 19096005] 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 19258388] 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 19357773] Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians.
[PMID 19380441] 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 19566948] Polymorphisms of TGFB1 and VEGF genes and survival of patients with gastric cancer.
[PMID 19567509] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
[PMID 19710942] Sclera-related gene polymorphisms in high myopia.
[PMID 19745160] Trend tests for genetic association using population-based cross-sectional complex survey data.
[PMID 19835575] The VEGF -634G>C promoter polymorphism is associated with risk of gastric cancer.
[PMID 19933216] The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.
[PMID 20096948] 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 20332227] 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 20479942] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
[PMID 20605201] 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 21320324] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.
[PMID 21527583] 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 21596841] 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 22532573] The role of genetic breast cancer susceptibility variants as prognostic factors.
[PMID 22931704] The haplotype of the TGFβ1 gene associated with cerebral infarction in Chinese
[PMID 22662243] Meta-analysis of the association between transforming growth factor-beta polymorphisms and complications of coronary heart disease
[PMID 23734748] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes
| ClinVar | |
|---|---|
| Risk | rs1800470(G;G) rs1800470(T;T) |
| Alt | rs1800470(G;G) rs1800470(T;T) |
| Reference | rs1800470(C;C) |
| Significance | Other |
| Disease | Cystic fibrosis Breast cancer Diaphyseal dysplasia not specified |
| Variation | info |
| Gene | TGFB1 TMEM91 |
| CLNDBN | Cystic fibrosis Breast cancer, invasive, susceptibility to Diaphyseal dysplasia not specified |
| Reversed | 1 |
| HGVS | NC_000019.9:g.41858921G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013360.26, RCV000013361.3, RCV000032141.1, RCV000242872.1, |
[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 24142982] 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 23029430] 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 23438931] 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 24825461] 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 26629166] Single-nucleotide polymorphisms of TGFβ1 and ATM associated with radiation-induced pneumonitis: a prospective cohort study of thoracic cancer patients in China.
[PMID 28767390] Association between TGFB1 genetic polymorphisms and chronic allograft dysfunction: a systematic review and meta-analysis.
[PMID 28802359] Transmission analysis of TGFB1 gene polymorphisms in non-syndromic cleft lip with or without cleft palate.
[PMID 28860542] Genetic association study of common variants in TGFB1 and IL-6 with developmental dysplasia of the hip in Han Chinese population.
[PMID 28977960] Association between TGFB1 genetic polymorphisms and chronic allograft dysfunction: a systematic review and meta-analysis.
[PMID 29920840] Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.
[PMID 30212926] The association between transforming growth factor beta1 polymorphism and susceptibility to pulmonary fibrosis: A meta-analysis (MOOSE compliant).
[PMID 31405342] Transforming growth factor beta 1 polymorphisms and haplotypes associated with breast cancer susceptibility: A case-control study in Tunisian women.
[PMID 31816580] Association between polymorphisms of cytokine genes and brucellosis: A comprehensive systematic review and meta-analysis.
[PMID 32354559] Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 With CKD in Nigerian Patients With and Without HIV.
[PMID 33274798] TGFB1 polymorphisms and TGF-β1 plasma levels identify gastric adenocarcinoma patients with lower survival rate and disseminated disease.
