rs1800472
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| Make rs1800472(C;T) |
| Make rs1800472(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 41341955 |
| Gene | TGFB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800472 |
| dbSNP (classic) | rs1800472 |
| ClinGen | rs1800472 |
| ebi | rs1800472 |
| HLI | rs1800472 |
| Exac | rs1800472 |
| Gnomad | rs1800472 |
| Varsome | rs1800472 |
| LitVar | rs1800472 |
| Map | rs1800472 |
| PheGenI | rs1800472 |
| Biobank | rs1800472 |
| 1000 genomes | rs1800472 |
| hgdp | rs1800472 |
| ensembl | rs1800472 |
| geneview | rs1800472 |
| scholar | rs1800472 |
| rs1800472 | |
| pharmgkb | rs1800472 |
| gwascentral | rs1800472 |
| openSNP | rs1800472 |
| 23andMe | rs1800472 |
| SNPshot | rs1800472 |
| SNPdbe | rs1800472 |
| MSV3d | rs1800472 |
| GWAS Ctlg | rs1800472 |
| GMAF | 0.01331 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 15113403
] 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 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 15157284] 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 17333284] 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 18424453] Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
[PMID 18640487] Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation.
[PMID 18687755] 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 19138047] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
[PMID 20346360] Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
[PMID 22385796] TGFbeta1 SNPs and radio-induced toxicity in prostate cancer patients.
| 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 | RCV000203155.2, |
[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 31405342] Transforming growth factor beta 1 polymorphisms and haplotypes associated with breast cancer susceptibility: A case-control study in Tunisian women.
