rs193922660
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs193922660(A;G) |
| Make rs193922660(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 30672334 |
| Gene | TGFBR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922660 |
| dbSNP (classic) | rs193922660 |
| ClinGen | rs193922660 |
| ebi | rs193922660 |
| HLI | rs193922660 |
| Exac | rs193922660 |
| Gnomad | rs193922660 |
| Varsome | rs193922660 |
| LitVar | rs193922660 |
| Map | rs193922660 |
| PheGenI | rs193922660 |
| Biobank | rs193922660 |
| 1000 genomes | rs193922660 |
| hgdp | rs193922660 |
| ensembl | rs193922660 |
| geneview | rs193922660 |
| scholar | rs193922660 |
| rs193922660 | |
| pharmgkb | rs193922660 |
| gwascentral | rs193922660 |
| openSNP | rs193922660 |
| 23andMe | rs193922660 |
| SNPshot | rs193922660 |
| SNPdbe | rs193922660 |
| MSV3d | rs193922660 |
| GWAS Ctlg | rs193922660 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922660(G;G) |
| Alt | rs193922660(G;G) |
| Reference | Rs193922660(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Loeys-Dietz syndrome |
| Variation | info |
| Gene | TGFBR2 |
| CLNDBN | Loeys-Dietz syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.30713826A>G |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030542.1, |
[PMID 16799921] TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
[PMID 16928994] Aneurysm syndromes caused by mutations in the TGF-beta receptor.
[PMID 17061023] Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
[PMID 17935258] A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
