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rs1800472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs1800472(C;T)
Make rs1800472(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41341955
GeneTGFB1
is asnp
is mentioned by
dbSNPrs1800472
ebirs1800472
HLIrs1800472
Exacrs1800472
Varsomers1800472
Maprs1800472
PheGenIrs1800472
hapmaprs1800472
1000 genomesrs1800472
hgdprs1800472
ensemblrs1800472
gopubmedrs1800472
geneviewrs1800472
scholarrs1800472
googlers1800472
pharmgkbrs1800472
gwascentralrs1800472
openSNPrs1800472
23andMers1800472
23andMe allrs1800472
SNP Nexus

SNPshotrs1800472
SNPdbers1800472
MSV3drs1800472
GWAS Ctlgrs1800472
GMAF0.01331
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 15113403OA-icon.png] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.


[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 15157284OA-icon.png] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.


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


[PMID 17333284OA-icon.png] Genetic polymorphisms in transforming growth factor beta-1 (TGFB1) and childhood asthma and atopy.


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


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


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


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


[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.


[PMID 20346360OA-icon.png] Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.


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


GET Evidence
TGFB1-T263I
aa_change Thr263Ile
aa_change_short T263I
impact protective
qualified_impact Low clinical importance, Uncertain protective
overall_frequency 0.0205429
summary Carriers may be less likely to have cleft lip and palate congenital deformity.



ClinVar
Risk rs1800472(T;T)
Alt rs1800472(T;T)
Reference rs1800472(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene TGFB1
CLNDBN not specified
Reversed 1
HGVS NC_000019.9:g.41847860G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000203155.1,



[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.