rs1800471
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1800471(C;C) |
| Make rs1800471(C;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 41352971 |
| Gene | TGFB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800471 |
| dbSNP (classic) | rs1800471 |
| ClinGen | rs1800471 |
| ebi | rs1800471 |
| HLI | rs1800471 |
| Exac | rs1800471 |
| Gnomad | rs1800471 |
| Varsome | rs1800471 |
| LitVar | rs1800471 |
| Map | rs1800471 |
| PheGenI | rs1800471 |
| Biobank | rs1800471 |
| 1000 genomes | rs1800471 |
| hgdp | rs1800471 |
| ensembl | rs1800471 |
| geneview | rs1800471 |
| scholar | rs1800471 |
| rs1800471 | |
| pharmgkb | rs1800471 |
| gwascentral | rs1800471 |
| openSNP | rs1800471 |
| 23andMe | rs1800471 |
| SNPshot | rs1800471 |
| SNPdbe | rs1800471 |
| MSV3d | rs1800471 |
| GWAS Ctlg | rs1800471 |
| GMAF | 0.04637 |
| Max Magnitude | 0 |
rs1800471 encodes a change at codon 25 of the TGFB1 gene. It is reported to predispose several organs to fibrosis, and in relation to Crohn's disease, it was associated with stricturing Crohn's disease (odds ratio 2.63, CI: 1.16-5.88, p=0.01) and a shorter time to intestinal resection (p = 0.06) in a study of several hundred Australian patients.[PMID 17047091
]
{{PMID Auto |PMID=19258388 |Title=Genetic variation in the transforming growth factor-{beta}1 gene is associated with susceptibility to IgA nephropathy. |OA=1 }}
[PMID 19380441] Single Nucleotide Polymorphism at rs1982073:T869C of the TGF{beta}1 Gene Is Associated With the Risk of Radiation Pneumonitis in Patients With Non-Small-Cell Lung Cancer Treated With Definitive Radiotherapy
[PMID 20571834] Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients
[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 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 16543493] Association of transforming growth factor-beta1 gene polymorphisms with myocardial infarction in patients with angiographically proven coronary heart 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 17673695] Transforming growth factor- 1 C-509T polymorphism, oxidant stress, and early-onset childhood asthma.
[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 19004027] TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosis.
[PMID 19087310] Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.
[PMID 19096005] Variants in TGFB1, dust mite exposure, and disease severity in children with asthma.
[PMID 19173720] Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants.
[PMID 19356949] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
[PMID 19566948] Polymorphisms of TGFB1 and VEGF genes and survival of patients with gastric cancer.
[PMID 19835575] The VEGF -634G>C promoter polymorphism is associated with risk of gastric cancer.
[PMID 21562768] A study of the impact of cytokine gene polymorphism in acute rejection of renal transplant recipients.
[PMID 22322241] PRKCB is associated with calcineurin inhibitor-induced renal dysfunction in heart transplant recipients.
[PMID 22433249] Genetic polymorphisms located in TGFB1, AGTR1, and VEGFA genes are associated to chronic renal allograft dysfunction.
[PMID 23059779] A Study of Ethnic Differences in TGFβ1 Gene Polymorphisms and Effects on the Risk of Radiation Pneumonitis in Non-Small-Cell Lung Cancer
[PMID 22662243] Meta-analysis of the association between transforming growth factor-beta polymorphisms and complications of coronary heart disease
[PMID 23446766] Transforming Growth Factor Beta 1 is a Novel Susceptibility Gene for Adolescent Idiopathic Scoliosis
[PMID 23840350] TGFβ1 Polymorphisms Predict Distant Metastasis-Free Survival in Patients with Inoperable Non-Small-Cell Lung Cancer after Definitive Radiotherapy
[PMID 23941979] Association of Genetic Polymorphisms With Histological Grading of Necroinflammation, Staging of Fibrosis, and Liver Function in Mexicans With Chronic Hepatitis C Virus Infection
| ClinVar | |
|---|---|
| Risk | rs1800471(C;C) |
| Alt | rs1800471(C;C) |
| Reference | Rs1800471(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | TMEM91 TGFB1 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000019.9:g.41858876C>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000250799.1, |
[PMID 23051628] Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis
[PMID 23416372] Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss
[PMID 22659181] Analysis of TGFB1 in European and Japanese Moyamoya disease patients.
[PMID 23029430] Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma.
[PMID 23325483] Contribution of TGFbeta1 codon 10 polymorphism to high myopia in an ethnic Kashmiri population from India.
[PMID 28767390] Association between TGFB1 genetic polymorphisms and chronic allograft dysfunction: a systematic review and meta-analysis.
[PMID 28977960] Association between TGFB1 genetic polymorphisms and chronic allograft dysfunction: a systematic review and meta-analysis.
[PMID 30321660] The correlation of TGFβ1 gene polymorphisms with congenital heart disease susceptibility.
[PMID 30746337] Association of Growth Factors Genes with Miscarriage.
[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.
