rs727505269
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 5.5 | Marfan syndrome mutation |
| (C;C) | 0 | common in clinvar |
| Make rs727505269(-;-) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 48537687 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727505269 |
| dbSNP (classic) | rs727505269 |
| ClinGen | rs727505269 |
| ebi | rs727505269 |
| HLI | rs727505269 |
| Exac | rs727505269 |
| Gnomad | rs727505269 |
| Varsome | rs727505269 |
| LitVar | rs727505269 |
| Map | rs727505269 |
| PheGenI | rs727505269 |
| Biobank | rs727505269 |
| 1000 genomes | rs727505269 |
| hgdp | rs727505269 |
| ensembl | rs727505269 |
| geneview | rs727505269 |
| scholar | rs727505269 |
| rs727505269 | |
| pharmgkb | rs727505269 |
| gwascentral | rs727505269 |
| openSNP | rs727505269 |
| 23andMe | rs727505269 |
| SNPshot | rs727505269 |
| SNPdbe | rs727505269 |
| MSV3d | rs727505269 |
| GWAS Ctlg | rs727505269 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs727505269(-;-) |
| Alt | rs727505269(-;-) |
| Reference | Rs727505269(C;C) |
| Significance | Pathogenic |
| Disease | Marfan syndrome |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48829884delG |
| CLNSRC | |
| CLNACC | RCV000156795.1, |
