rs137854459
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 5.5 | Marfan syndrome mutation |
| (T;T) | 0 | common in clinvar |
| Make rs137854459(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 48463977 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854459 |
| dbSNP (classic) | rs137854459 |
| ClinGen | rs137854459 |
| ebi | rs137854459 |
| HLI | rs137854459 |
| Exac | rs137854459 |
| Gnomad | rs137854459 |
| Varsome | rs137854459 |
| LitVar | rs137854459 |
| Map | rs137854459 |
| PheGenI | rs137854459 |
| Biobank | rs137854459 |
| 1000 genomes | rs137854459 |
| hgdp | rs137854459 |
| ensembl | rs137854459 |
| geneview | rs137854459 |
| scholar | rs137854459 |
| rs137854459 | |
| pharmgkb | rs137854459 |
| gwascentral | rs137854459 |
| openSNP | rs137854459 |
| 23andMe | rs137854459 |
| SNPshot | rs137854459 |
| SNPdbe | rs137854459 |
| MSV3d | rs137854459 |
| GWAS Ctlg | rs137854459 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs137854459(C;C) |
| Alt | rs137854459(C;C) |
| Reference | Rs137854459(T;T) |
| Significance | Pathogenic |
| Disease | Marfan syndrome |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48756174A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017888.28, |
