rs869025419
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5.5 | Marfan syndrome mutation |
| (C;G) | 5.5 | Marfan syndrome mutation |
| (G;G) | 0 | common in clinvar |
| Make rs869025419(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 15 |
| Position | 48432865 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869025419 |
| dbSNP (classic) | rs869025419 |
| ClinGen | rs869025419 |
| ebi | rs869025419 |
| HLI | rs869025419 |
| Exac | rs869025419 |
| Gnomad | rs869025419 |
| Varsome | rs869025419 |
| LitVar | rs869025419 |
| Map | rs869025419 |
| PheGenI | rs869025419 |
| Biobank | rs869025419 |
| 1000 genomes | rs869025419 |
| hgdp | rs869025419 |
| ensembl | rs869025419 |
| geneview | rs869025419 |
| scholar | rs869025419 |
| rs869025419 | |
| pharmgkb | rs869025419 |
| gwascentral | rs869025419 |
| openSNP | rs869025419 |
| 23andMe | rs869025419 |
| SNPshot | rs869025419 |
| SNPdbe | rs869025419 |
| MSV3d | rs869025419 |
| GWAS Ctlg | rs869025419 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs869025419(A;A) |
| Alt | rs869025419(A;A) |
| Reference | Rs869025419(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Marfan syndrome |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48725062C>T |
| CLNSRC | |
| CLNACC | RCV000208077.1, |
