{{Rsnum
|rsid=1800472
|Gene=TGFB1
|Chromosome=19
|position=41341955
|Orientation=minus
|GMAF=0.01331
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=TGFB1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 92.9 | 7.1 | 0.0
| HCB | 95.5 | 4.5 | 0.0
| JPT | 98.2 | 1.8 | 0.0
| YRI | 97.9 | 2.1 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 95.5 | 4.5 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 94.9 | 5.1 | 0.0
| LWK | 97.3 | 2.7 | 0.0
| MEX | 89.3 | 10.7 | 0.0
| MKK | 98.7 | 1.3 | 0.0
| TSI | 91.0 | 9.0 | 0.0
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs1800472
|Name_s=TGFB1:Thr263Ile; TGFB1:Ex5-73C>T
|Gene_s=TGFB1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15212689
|Annotation=May be associated with clefts of the lip, alveolus, and palate.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145113
}}

{{PMID Auto
|PMID=15113403
|Title=Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
|OA=1
}}

{{PMID Auto
|PMID=15113441
|Title=Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.
|OA=1
}}

{{PMID Auto
|PMID=15157284
|Title=Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=16543493
|Title=Association of transforming growth factor-beta1 gene polymorphisms with myocardial infarction in patients with angiographically proven coronary heart disease.
}}

{{PMID Auto
|PMID=17333284
|Title=Genetic polymorphisms in transforming growth factor beta-1 (TGFB1) and childhood asthma and atopy.
|OA=1
}}

{{PMID Auto
|PMID=18284942
|Title=Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study.
}}

{{PMID Auto
|PMID=18424453
|Title=Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
|OA=1
}}

{{PMID Auto
|PMID=18640487
|Title=Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation.
|OA=1
}}

{{PMID Auto
|PMID=18687755
|Title=Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.
|OA=1
}}

{{PMID Auto
|PMID=19004027
|Title=TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosis.
}}

{{PMID Auto
|PMID=19138047
|Title=Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
|OA=1
}}

{{PMID Auto
|PMID=20346360
|Title=Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
|OA=1
}}

{{PMID Auto
|PMID=22385796
|Title=TGFbeta1 SNPs and radio-induced toxicity in prostate cancer patients.
}}

{{GET Evidence
|gene=TGFB1
|aa_change=Thr263Ile
|aa_change_short=T263I
|impact=protective
|qualified_impact=Low clinical importance, Uncertain protective
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs1800472
|overall_frequency_n=221
|overall_frequency_d=10758
|overall_frequency=0.0205429
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=1
|n_articles_annotated=1
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=Carriers may be less likely to have cleft lip and palate congenital deformity.
}}

{{ClinVar
|ALT=A
|CAF=0.9867; 0.01331
|CHROM=19
|CLNACC=RCV000032153.1
|CLNALLE=1
|CLNDBN=Diaphyseal dysplasia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1156:C0011989:131300:1328:34643004
|CLNHGVS=NC_000019.9:g.41847860G>A
|CLNSIG=2
|CLNSRC=GeneReviews
|CLNSRCID=NBK1156
|COMMON=1
|Disease=Diaphyseal dysplasia
|FwdALT=T
|FwdREF=C
|GENEINFO=TGFB1:7040
|GENE_ID=7040
|GENE_NAME=TGFB1
|REF=G
|RSPOS=41847860
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;TPA;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|VC=SNV
|VP=0x050378000000150517100101
|WGT=0
|dbSNPBuildID=89
|rsid=1800472
}}

{{PMID Auto
|PMID=23352795
|Title=Association of TGF-beta1 -509 C/T, 29 C/T and 788 C/T gene polymorphisms with chronic periodontitis: a case-control study.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}