rs2228048
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs2228048(C;T) |
| Make rs2228048(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 30672350 |
| Gene | TGFBR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228048 |
| dbSNP (classic) | rs2228048 |
| ClinGen | rs2228048 |
| ebi | rs2228048 |
| HLI | rs2228048 |
| Exac | rs2228048 |
| Gnomad | rs2228048 |
| Varsome | rs2228048 |
| LitVar | rs2228048 |
| Map | rs2228048 |
| PheGenI | rs2228048 |
| Biobank | rs2228048 |
| 1000 genomes | rs2228048 |
| hgdp | rs2228048 |
| ensembl | rs2228048 |
| geneview | rs2228048 |
| scholar | rs2228048 |
| rs2228048 | |
| pharmgkb | rs2228048 |
| gwascentral | rs2228048 |
| openSNP | rs2228048 |
| 23andMe | rs2228048 |
| SNPshot | rs2228048 |
| SNPdbe | rs2228048 |
| MSV3d | rs2228048 |
| GWAS Ctlg | rs2228048 |
| GMAF | 0.08356 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21609163] Association between TGFBR2 Gene Polymorphism (rs2228048, Asn389Asn) and Intracerebral Hemorrhage in Korean Population
[PMID 21917900] Genetic Variations and Interactions in Anti-inflammatory Cytokine Pathway Genes in the Outcome of Leprosy: A Study Conducted on a MassARRAY Platform
[PMID 17319955
] 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 18095113] Mutational analysis of transforming growth factor-beta receptor type II and Smad3 tumor suppressor genes in prolactinomas.
[PMID 19091845] No TGFBRII germline mutations in juvenile polyposis patients without SMAD4 or BMPR1A mutation.
[PMID 19299629] Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.
[PMID 23883197] Association between a TGFBR2 Gene Polymorphism (rs2228048, Asn389Asn) and Acute Rejection in Korean Kidney Transplantation Recipients
| ClinVar | |
|---|---|
| Risk | rs2228048(T;T) |
| Alt | rs2228048(T;T) |
| Reference | Rs2228048(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Thoracic aortic aneurysm and aortic dissection Marfan syndrome Loeys-Dietz syndrome |
| Variation | info |
| Gene | TGFBR2 |
| CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection Marfan syndrome Loeys-Dietz syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.30713842C>T |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000037729.5, RCV000249482.2, RCV000287055.1, RCV000397888.1, |
