rs397515818
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 5.5 | Marfan syndrome mutation |
| (G;G) | 0 | common in clinvar |
| Make rs397515818(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 48596324 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515818 |
| dbSNP (classic) | rs397515818 |
| ClinGen | rs397515818 |
| ebi | rs397515818 |
| HLI | rs397515818 |
| Exac | rs397515818 |
| Gnomad | rs397515818 |
| Varsome | rs397515818 |
| LitVar | rs397515818 |
| Map | rs397515818 |
| PheGenI | rs397515818 |
| Biobank | rs397515818 |
| 1000 genomes | rs397515818 |
| hgdp | rs397515818 |
| ensembl | rs397515818 |
| geneview | rs397515818 |
| scholar | rs397515818 |
| rs397515818 | |
| pharmgkb | rs397515818 |
| gwascentral | rs397515818 |
| openSNP | rs397515818 |
| 23andMe | rs397515818 |
| SNPshot | rs397515818 |
| SNPdbe | rs397515818 |
| MSV3d | rs397515818 |
| GWAS Ctlg | rs397515818 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs397515818(C;C) |
| Alt | rs397515818(C;C) |
| Reference | Rs397515818(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Marfan syndrome |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48888521C>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000035218.2, |
