rs2241715
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2241715(G;G) |
| Make rs2241715(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 41350981 |
| Gene | TGFB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2241715 |
| dbSNP (classic) | rs2241715 |
| ClinGen | rs2241715 |
| ebi | rs2241715 |
| HLI | rs2241715 |
| Exac | rs2241715 |
| Gnomad | rs2241715 |
| Varsome | rs2241715 |
| LitVar | rs2241715 |
| Map | rs2241715 |
| PheGenI | rs2241715 |
| Biobank | rs2241715 |
| 1000 genomes | rs2241715 |
| hgdp | rs2241715 |
| ensembl | rs2241715 |
| geneview | rs2241715 |
| scholar | rs2241715 |
| rs2241715 | |
| pharmgkb | rs2241715 |
| gwascentral | rs2241715 |
| openSNP | rs2241715 |
| 23andMe | rs2241715 |
| SNPshot | rs2241715 |
| SNPdbe | rs2241715 |
| MSV3d | rs2241715 |
| GWAS Ctlg | rs2241715 |
| GMAF | 0.3705 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
{{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 19910030
] Evaluation of candidate genes in a genome-wide association study of childhood asthma in Mexicans
[PMID 18292811] Complex two-gene modulation of lung disease severity in children with cystic fibrosis.
[PMID 20479942] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
| ClinVar | |
|---|---|
| Risk | rs2241715(G;G) |
| Alt | rs2241715(G;G) |
| Reference | Rs2241715(T;T) |
| Significance | Non-pathogenic |
| Disease | Diaphyseal dysplasia |
| Variation | info |
| Gene | TGFB1 |
| CLNDBN | Diaphyseal dysplasia |
| Reversed | 1 |
| HGVS | NC_000019.10:g.41350981A>C |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032145.1, |
[PMID 31586488] Effect of gene polymorphisms in ADAM33, TGFβ1, VEGFA, and PLAUR on asthma in Thai population.
