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rs1800471

From SNPedia

Orientationminus
Stabilizedminus
Make rs1800471(C;C)
Make rs1800471(C;G)
Make rs1800471(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position41352971
GeneTGFB1
is asnp
is mentioned by
dbSNPrs1800471
ebirs1800471
HLIrs1800471
Exacrs1800471
Varsomers1800471
Maprs1800471
PheGenIrs1800471
hapmaprs1800471
1000 genomesrs1800471
hgdprs1800471
ensemblrs1800471
gopubmedrs1800471
geneviewrs1800471
scholarrs1800471
googlers1800471
pharmgkbrs1800471
gwascentralrs1800471
openSNPrs1800471
23andMers1800471
23andMe allrs1800471
SNP Nexus

SNPshotrs1800471
SNPdbers1800471
MSV3drs1800471
GWAS Ctlgrs1800471
GMAF0.04637
Max Magnitude
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 17047091OA-icon.png]
Neighborrs1982073
Distance45
[PMID 19258388OA-icon.png] Genetic variation in the transforming growth factor-{beta}1 gene is associated with susceptibility to IgA nephropathy.

[PMID 19380441OA-icon.png] 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 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 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 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 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 17673695OA-icon.png] 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 19087310OA-icon.png] Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.


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


[PMID 19173720OA-icon.png] Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants.


[PMID 19356949OA-icon.png] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.


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


[PMID 19835575OA-icon.png] 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


GET Evidence
TGFB1-R25P
aa_change Arg25Pro
aa_change_short R25P
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.0488858
summary This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension.



[PMID 22662243OA-icon.png] 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 23840350OA-icon.png] 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 Diaphyseal dysplasia
Variation info
Gene TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.10:g.41352971C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032152.1,



[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 23029430OA-icon.png] 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.