rs193922228
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs193922228(C;C) |
| Make rs193922228(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 48430736 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922228 |
| dbSNP (classic) | rs193922228 |
| ClinGen | rs193922228 |
| ebi | rs193922228 |
| HLI | rs193922228 |
| Exac | rs193922228 |
| Gnomad | rs193922228 |
| Varsome | rs193922228 |
| LitVar | rs193922228 |
| Map | rs193922228 |
| PheGenI | rs193922228 |
| Biobank | rs193922228 |
| 1000 genomes | rs193922228 |
| hgdp | rs193922228 |
| ensembl | rs193922228 |
| geneview | rs193922228 |
| scholar | rs193922228 |
| rs193922228 | |
| pharmgkb | rs193922228 |
| gwascentral | rs193922228 |
| openSNP | rs193922228 |
| 23andMe | rs193922228 |
| SNPshot | rs193922228 |
| SNPdbe | rs193922228 |
| MSV3d | rs193922228 |
| GWAS Ctlg | rs193922228 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922228(C;C) |
| Alt | rs193922228(C;C) |
| Reference | Rs193922228(T;T) |
| Significance | Other |
| Disease | Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48722933A>G |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029769.4, RCV000246714.1, RCV000255307.2, |
[PMID 16342] Cardiac pacemaking: an obligatory role of catecholamines?
[PMID 10464652] Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
[PMID 12203992] TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
[PMID 12938084] Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
[PMID 17657824] The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
[PMID 19159394] Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
